A1063V (p.Ala1063Val) variant of ATP7B (Copper-transporting ATPase 2)
A1063V (p.Ala1063Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Wilson disease; not provided. 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.
A1063V (p.Ala1063Val) variant details
- p.Ala1063Val
- rs587783309
- ClinGen CA171310
- NCI-TCGA Cosmic COSV5443
- NCI-TCGA Cosmic COSV5444
- Conflicting interpretations
- Wilson disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.64
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease; not provided)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. (PMID 10544227)
- Cited in: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PMID 15967699)