D829V (p.Asp829Val) variant of ATP7B (Copper-transporting ATPase 2)
D829V (p.Asp829Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D829V (p.Asp829Val) variant details
- p.Asp829Val
- rs1566503575
- ClinGen CA388016678
- ClinVar RCV002620988
- Conflicting interpretations
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease)
- UniProt: Conflicting interpretations
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)