A0A0G2JL97 · A0A0G2JL97_HUMAN
- ProteinAldehyde dehydrogenase 1 family member A2
- GeneALDH1A2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV51078725 rs759343623 | 2 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) Somatic: Yes Population frequencies: - MAF: 0.00000398 (gnomAD) Accession: NC_000015.10:g.58013928T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 15q21.3 Genomic location: NC_000015.10:g.58013928T>C Locations: - p.D2G (NCI-TCGA:ENST00000557967) - p.Asp2Gly (Ensembl:ENST00000557967) - c.5A>G (Ensembl:ENST00000557967) Source type: large scale study | |||||||
rs1336810140 | 5 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) Somatic: No Accession: NC_000015.10:g.58013919T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 15q21.3 Genomic location: NC_000015.10:g.58013919T>C Locations: - p.Glu5Gly (Ensembl:ENST00000557967) - c.14A>G (Ensembl:ENST00000557967) Source type: large scale study Cross-references: | |||||||
rs1196624385 | 6 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) Somatic: No Accession: NC_000015.10:g.58013917T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 15q21.3 Genomic location: NC_000015.10:g.58013917T>C Locations: - p.Arg6Gly (Ensembl:ENST00000557967) - c.16A>G (Ensembl:ENST00000557967) Source type: large scale study Cross-references: | |||||||
rs1289349342 | 8 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.693) Somatic: No Accession: NC_000015.10:g.58013911G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 15q21.3 Genomic location: NC_000015.10:g.58013911G>A Locations: - p.Arg8Cys (Ensembl:ENST00000557967) - c.22C>T (Ensembl:ENST00000557967) Source type: large scale study Cross-references: | |||||||
COSV51090735 rs769522277 rs769522277,COSV51090735 | 8 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.049) Somatic: Yes Population frequencies: - MAF: 0.000003979 (gnomAD) Accession: NC_000015.10:g.58013910C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 15q21.3 Genomic location: NC_000015.10:g.58013910C>T Locations: - p.R8H (NCI-TCGA:ENST00000557967) - p.Arg8His (Ensembl:ENST00000557967) - c.23G>A (Ensembl:ENST00000557967) Source type: large scale study |