V890M (p.Val890Met) variant of ATP7B (Copper-transporting ATPase 2)
V890M (p.Val890Met) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V890M (p.Val890Met) variant details
- p.Val890Met
- rs786204718
- ClinGen CA274401
- cosmic curated COSV54435
- ClinVar RCV000169535
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.89
- MetaSVM 0.97
- CADD 25.50
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel… (PMID 11216666)
- Cited in: Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic… (PMID 14986826)