E5RJG1 · E5RJG1_HUMAN
- ProteinATPase H+ transporting V1 subunit H
- GeneATP6V1H
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs764637884 | 3 | K>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.53841684T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841684T>A Locations: - p.Lys3Ter (Ensembl:ENST00000524164) - c.7A>T (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs764637884 | 3 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.53841684T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841684T>C Locations: - p.Lys3Glu (Ensembl:ENST00000524164) - c.7A>G (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs370531478 | 5 | D>G | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841677T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841677T>C Locations: - p.Asp5Gly (Ensembl:ENST00000524164) - c.14A>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs756460369 | 5 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841678C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841678C>A Locations: - p.Asp5Tyr (Ensembl:ENST00000524164) - c.13G>T (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs1332184943 | 6 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.53841675T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841675T>C Locations: - p.Ile6Val (Ensembl:ENST00000524164) - c.16A>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs753132077 | 7 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.53841672G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841672G>A Locations: - p.Arg7Ter (Ensembl:ENST00000524164) - c.19C>T (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs767877094 | 7 | R>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000008.11:g.53841671C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841671C>T Locations: - p.Arg7Gln (Ensembl:ENST00000524164) - c.20G>A (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs1811346786 | 10 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.53841662A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841662A>G Locations: - p.Val10Ala (Ensembl:ENST00000524164) - c.29T>C (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs759625057 | 12 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000008.11:g.53841656G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841656G>A Locations: - p.Ala12Val (Ensembl:ENST00000524164) - c.35C>T (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs1585846701 | 13 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.53841654C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841654C>G Locations: - p.Ala13Pro (Ensembl:ENST00000524164) - c.37G>C (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1585846693 | 14 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000008.11:g.53841650A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841650A>G Locations: - p.Val14Ala (Ensembl:ENST00000524164) - c.41T>C (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs201854124 | 15 | P>A | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000008.11:g.53841648G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841648G>C Locations: - p.Pro15Ala (Ensembl:ENST00000524164) - c.43C>G (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs1811346214 | 15 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841647G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841647G>T Locations: - p.Pro15His (Ensembl:ENST00000524164) - c.44C>A (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1563322475 | 16 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841644G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841644G>A Locations: - p.Thr16Ile (Ensembl:ENST00000524164) - c.47C>T (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1811345896 | 17 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000008.11:g.53841642T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841642T>C Locations: - p.Asn17Asp (Ensembl:ENST00000524164) - c.49A>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1413658618 | 17 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000008.11:g.53841641T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841641T>C Locations: - p.Asn17Ser (Ensembl:ENST00000524164) - c.50A>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1156596758 | 18 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000008.11:g.53841639T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841639T>C Locations: - p.Ile18Val (Ensembl:ENST00000524164) - c.52A>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs2130552578 | 19 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000008.11:g.53841636T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841636T>C Locations: - p.Ile19Val (Ensembl:ENST00000524164) - c.55A>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs2130552559 | 23 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841624C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841624C>A Locations: - p.Ala23Ser (Ensembl:ENST00000524164) - c.67G>T (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs138530171 | 24 | A>V | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000008.11:g.53841620G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841620G>A Locations: - p.Ala24Val (Ensembl:ENST00000524164) - c.71C>T (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1585846632 | 26 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841614A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841614A>C Locations: - p.Val26Gly (Ensembl:ENST00000524164) - c.77T>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs768780507 | 27 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841612G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841612G>A Locations: - p.Arg27Cys (Ensembl:ENST00000524164) - c.79C>T (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs768780507 | 27 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.426) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841612G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841612G>C Locations: - p.Arg27Gly (Ensembl:ENST00000524164) - c.79C>G (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs746947272 | 27 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000008.11:g.53841611C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841611C>T Locations: - p.R27H (NCI-TCGA:ENST00000524164) - p.Arg27His (Ensembl:ENST00000524164) - c.80G>A (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs746947272 | 27 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.648) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841611C>G Codon: CGT/CCT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841611C>G Locations: - p.Arg27Pro (Ensembl:ENST00000524164) - c.80G>C (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs11555055 | 29 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.53841606T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841606T>C Locations: - p.Asn29Asp (Ensembl:ENST00000524164) - c.85A>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs374332818 | 29 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000008.11:g.53841605T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841605T>C Locations: - p.Asn29Ser (Ensembl:ENST00000524164) - c.86A>G (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs1223593027 | 32 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841597T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841597T>C Locations: - p.Asn32Asp (Ensembl:ENST00000524164) - c.94A>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1458965659 | 33 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841592C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841592C>A Locations: - p.Trp33Cys (Ensembl:ENST00000524164) - c.99G>T (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1209418841 | 35 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.795) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841587G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841587G>A Locations: - p.Ser35Phe (Ensembl:ENST00000524164) - c.104C>T (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs756702608 | 37 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53841582G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53841582G>A Locations: - p.Leu37Phe (Ensembl:ENST00000524164) - c.109C>T (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs2130529429 | 39 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53833085C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53833085C>T Locations: - p.Gly39Arg (Ensembl:ENST00000524164) - c.115G>A (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs2130529411 | 40 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53833080C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53833080C>G Locations: - p.Gln40His (Ensembl:ENST00000524164) - c.120G>C (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs2130529422 | 40 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53833081T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53833081T>G Locations: - p.Gln40Pro (Ensembl:ENST00000524164) - c.119A>C (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1811058915 | 41 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.53833079T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53833079T>A Locations: - p.Met41Leu (Ensembl:ENST00000524164) - c.121A>T (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1811058915 | 41 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53833079T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53833079T>C Locations: - p.Met41Val (Ensembl:ENST00000524164) - c.121A>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
COSV62220842 rs1432560536 | 44 | A>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: tolerated - low confidence (0.31) Somatic: Yes Accession: NC_000008.11:g.53833069G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53833069G>A Locations: - p.Ala44Val (Ensembl:ENST00000524164) - c.131C>T (Ensembl:ENST00000524164) Source type: large scale study | |||||||
COSV62217727 rs897241027 | 46 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.53833064C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53833064C>T Locations: - p.D46N (NCI-TCGA:ENST00000524164) - p.Asp46Asn (Ensembl:ENST00000524164) - c.136G>A (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs897241027 | 46 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53833064C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53833064C>A Locations: - p.Asp46Tyr (Ensembl:ENST00000524164) - c.136G>T (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
COSV62217435 rs1810934951 | 47 | L>F | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000008.11:g.53829532C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53829532C>A Locations: - p.Leu47Phe (Ensembl:ENST00000524164) - c.141G>T (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs777211165 | 47 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.53833061A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53833061A>C Locations: - p.Leu47Val (Ensembl:ENST00000524164) - c.139T>G (Ensembl:ENST00000524164) Source type: large scale study | |||||||
rs1273794237 | 47 | L>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.53829533A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53829533A>C Locations: - p.Leu47Trp (Ensembl:ENST00000524164) - c.140T>G (Ensembl:ENST00000524164) Source type: large scale study Cross-references: | |||||||
rs1451125451 | 49 | *>Q | TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000008.11:g.53829528A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 8q11.23 Genomic location: NC_000008.11:g.53829528A>G Locations: - p.Ter49GlnextTer24 (Ensembl:ENST00000524164) - c.145T>C (Ensembl:ENST00000524164) Source type: large scale study Cross-references: |