A0A7I2V3M8 · A0A7I2V3M8_HUMAN
- ProteinGlycogen synthase kinase 3 alpha
- GeneGSK3A
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs2036243717 | 4 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000019.10:g.42234452G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234452G>C Locations: - p.Gln4Glu (Ensembl:ENST00000676517) - c.10C>G (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
COSV99725599 rs760709783 | 4 | Q>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000019.10:g.42234451T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234451T>G Locations: - p.Q4P (NCI-TCGA:ENST00000676517) - p.Gln4Pro (Ensembl:ENST00000676517) - c.11A>C (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
COSV99725599 rs760709783 | 4 | Q>R | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000019.10:g.42234451T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234451T>C Locations: - p.Gln4Arg (Ensembl:ENST00000676517) - c.11A>G (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
rs774840736 | 7 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000019.10:g.42234442C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234442C>T Locations: - p.Arg7Gln (Ensembl:ENST00000676517) - c.20G>A (Ensembl:ENST00000676517) Source type: large scale study | |||||||
rs2036243618 | 11 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.42234431T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234431T>C Locations: - p.Asn11Asp (Ensembl:ENST00000676517) - c.31A>G (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
rs759105475 | 18 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.42234410G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234410G>A Locations: - p.Arg18Cys (Ensembl:ENST00000676517) - c.52C>T (Ensembl:ENST00000676517) Source type: large scale study | |||||||
COSV55900762 rs1035974110 | 18 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000019.10:g.42234409C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234409C>T Locations: - p.R18H (NCI-TCGA:ENST00000676517) - p.Arg18His (Ensembl:ENST00000676517) - c.53G>A (Ensembl:ENST00000676517) Source type: large scale study | |||||||
rs1035974110 | 18 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.698) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.42234409C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234409C>A Locations: - p.Arg18Leu (Ensembl:ENST00000676517) - c.53G>T (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
rs1035974110 | 18 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.42234409C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234409C>G Locations: - p.Arg18Pro (Ensembl:ENST00000676517) - c.53G>C (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
COSV55900807 rs2036243410 | 21 | R>Q | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000019.10:g.42234400C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234400C>T Locations: - p.Arg21Gln (Ensembl:ENST00000676517) - c.62G>A (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
rs981266433 | 21 | R>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.42234401G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234401G>A Locations: - p.Arg21Trp (Ensembl:ENST00000676517) - c.61C>T (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
rs1428107658 | 27 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.42234381A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234381A>C Locations: - p.Phe27Leu (Ensembl:ENST00000676517) - c.81T>G (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
rs2036243362 | 32 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000019.10:g.42234367T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42234367T>C Locations: - p.Tyr32Cys (Ensembl:ENST00000676517) - c.95A>G (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
rs528681888 | 38 | *>C | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000019.10:g.42233862T>A Codon: TGA/TGT Consequence type: stop lost Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42233862T>A Locations: - p.Ter38CysextTer? (Ensembl:ENST00000676517) - c.114A>T (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
rs548719556 | 38 | *>G | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000019.10:g.42233864A>C Codon: TGA/GGA Consequence type: stop lost Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42233864A>C Locations: - p.Ter38GlyextTer? (Ensembl:ENST00000676517) - c.112T>G (Ensembl:ENST00000676517) Source type: large scale study Cross-references: | |||||||
rs548719556 | 38 | *>R | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000019.10:g.42233864A>G Codon: TGA/CGA Consequence type: stop lost Cytogenetic band: 19q13.2 Genomic location: NC_000019.10:g.42233864A>G Locations: - p.Ter38ArgextTer? (Ensembl:ENST00000676517) - c.112T>C (Ensembl:ENST00000676517) Source type: large scale study Cross-references: |