F8WB73 · F8WB73_HUMAN
- ProteinDrebrin like
- GeneDBNL
- 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 | ||
---|---|---|---|---|---|---|---|
rs2096113618 | 2 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.44044741G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044741G>A Locations: - p.Ala2Thr (Ensembl:ENST00000439815) - c.4G>A (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs753561968 | 2 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044742C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044742C>T Locations: - p.Ala2Val (Ensembl:ENST00000439815) - c.5C>T (Ensembl:ENST00000439815) Source type: large scale study | |||||||
rs754591237 | 3 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.78) Somatic: No Accession: NC_000007.14:g.44044745C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044745C>T Locations: - p.Ala3Val (Ensembl:ENST00000439815) - c.8C>T (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs1370806174 | 5 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044751T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044751T>C Locations: - p.Leu5Pro (Ensembl:ENST00000439815) - c.14T>C (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs2096113651 | 6 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044755C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044755C>A Locations: - p.Ser6Arg (Ensembl:ENST00000439815) - c.18C>A (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs1357443015 | 8 | N>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044759A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044759A>C Locations: - p.Asn8His (Ensembl:ENST00000439815) - c.22A>C (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs2096113675 | 9 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044762G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044762G>A Locations: - p.Gly9Arg (Ensembl:ENST00000439815) - c.25G>A (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs771491870 | 11 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044769C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044769C>A Locations: - p.Ala11Glu (Ensembl:ENST00000439815) - c.32C>A (Ensembl:ENST00000439815) Source type: large scale study | |||||||
rs771491870 | 11 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.44044769C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044769C>G Locations: - p.Ala11Gly (Ensembl:ENST00000439815) - c.32C>G (Ensembl:ENST00000439815) Source type: large scale study | |||||||
rs771491870 | 11 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.44044769C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044769C>T Locations: - p.Ala11Val (Ensembl:ENST00000439815) - c.32C>T (Ensembl:ENST00000439815) Source type: large scale study | |||||||
rs1196137990 | 13 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044775A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044775A>G Locations: - p.Gln13Arg (Ensembl:ENST00000439815) - c.38A>G (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs2096113714 | 15 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044780G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044780G>A Locations: - p.Ala15Thr (Ensembl:ENST00000439815) - c.43G>A (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs1339094770 | 17 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000007.14:g.44044786G>T, NC_000007.14:g.44044786G>C Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044786G>T, NC_000007.14:g.44044786G>C Locations: - p.Val17Leu (Ensembl:ENST00000439815) - c.49G>T (Ensembl:ENST00000439815) - c.49G>C (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs1339094770 | 17 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000007.14:g.44044786G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044786G>A Locations: - p.Val17Met (Ensembl:ENST00000439815) - c.49G>A (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs2096113730 | 18 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000007.14:g.44044790G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044790G>A Locations: - p.Arg18Gln (Ensembl:ENST00000439815) - c.53G>A (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs2096113742 | 21 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.44044799C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044799C>T Locations: - p.Thr21Ile (Ensembl:ENST00000439815) - c.62C>T (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1585971722 | 22 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000007.14:g.44044802A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044802A>C Locations: - p.E22A (NCI-TCGA:ENST00000439815) - p.Glu22Ala (Ensembl:ENST00000439815) - c.65A>C (Ensembl:ENST00000439815) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1163402752 | 22 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.44044803G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044803G>T Locations: - p.Glu22Asp (Ensembl:ENST00000439815) - c.66G>T (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs781724607 | 22 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.44044801G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044801G>A Locations: - p.Glu22Lys (Ensembl:ENST00000439815) - c.64G>A (Ensembl:ENST00000439815) Source type: large scale study | |||||||
rs946812322 | 24 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044808C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044808C>T Locations: - p.Ser24Phe (Ensembl:ENST00000439815) - c.71C>T (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs1585971737 | 24 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044807T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044807T>C Locations: - p.Ser24Pro (Ensembl:ENST00000439815) - c.70T>C (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs1265339885 | 25 | P>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044811C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044811C>A Locations: - p.Pro25Gln (Ensembl:ENST00000439815) - c.74C>A (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs554451124 | 25 | P>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.44044810C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044810C>T Locations: - p.Pro25Ser (Ensembl:ENST00000439815) - c.73C>T (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs770215432 | 26 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044814C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044814C>A Locations: - p.Thr26Asn (Ensembl:ENST00000439815) - c.77C>A (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs2096113800 | 27 | D>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.44044817A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044817A>C Locations: - p.Asp27Ala (Ensembl:ENST00000439815) - c.80A>C (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs899897337 | 27 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.44044816G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44044816G>A Locations: - p.Asp27Asn (Ensembl:ENST00000439815) - c.79G>A (Ensembl:ENST00000439815) Source type: large scale study Cross-references: | |||||||
rs151009055 | 30 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000007.14:g.44056762C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44056762C>T Locations: - p.Pro30Leu (Ensembl:ENST00000439815) - c.89C>T (Ensembl:ENST00000439815) Source type: large scale study | |||||||
rs1277071233 | 31 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000007.14:g.44056765T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7p13 Genomic location: NC_000007.14:g.44056765T>C Locations: - p.Met31Thr (Ensembl:ENST00000439815) - c.92T>C (Ensembl:ENST00000439815) Source type: large scale study Cross-references: |