V995A (p.Val995Ala) variant of ATP7B (Copper-transporting ATPase 2)
V995A (p.Val995Ala) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V995A (p.Val995Ala) variant details
- p.Val995Ala
- rs777791532
- ClinGen CA6988847
- ClinVar RCV000672990
- ClinVar RCV003489792
- Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Wilson disease)
- EBI: Likely pathogenic (in WD)
- UniProt: Likely pathogenic (in WD)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: A genetic study of Wilson's disease in the United Kingdom. (PMID 23518715)
- Cited in: Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? (PMID 9837819)