A874V (p.Ala874Val) variant of ATP7B (Copper-transporting ATPase 2)
A874V (p.Ala874Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A874V (p.Ala874Val) variant details
- p.Ala874Val
- rs121907994
- ClinGen CA252892
- NCI-TCGA Cosmic COSV5443
- cosmic curated COSV54435
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.92
- CADD 25.30
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Molecular analysis and diagnosis in Japanese patients with Wilson's disease. (PMID 10453196)
- Cited in: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. (PMID 10544227)