V1146M (p.Val1146Met) variant of ATP7B (Copper-transporting ATPase 2)
V1146M (p.Val1146Met) 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 Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
V1146M (p.Val1146Met) variant details
- p.Val1146Met
- rs1213481140
- ClinGen CA388026717
- ClinVar RCV000668453
- UniProt VAR 000767
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. (PMID 10502776)
- Cited in: Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. (PMID 9671269)