A1018V (p.Ala1018Val) variant of ATP7B (Copper-transporting ATPase 2)
A1018V (p.Ala1018Val) 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 ATP7B-related disorder; not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A1018V (p.Ala1018Val) variant details
- p.Ala1018Val
- rs371840514
- ClinGen CA273886
- ClinVar RCV000169019
- ClinVar RCV001558241
- Pathogenic/Likely pathogenic
- ATP7B-related disorder; not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.89
- ESM-1b 0.15
- AlphaMissense 0.24
- CADD 26.50
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ATP7B-related disorder; not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. (PMID 10502776)
- Cited in: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PMID 15967699)