G943C (p.Gly943Cys) variant of ATP7B (Copper-transporting ATPase 2)
G943C (p.Gly943Cys) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G943C (p.Gly943Cys) variant details
- p.Gly943Cys
- rs28942076
- ClinGen CA388033415
- ClinVar RCV000674965
- UniProt VAR 044468
- Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Population evidence available
- Structural context available
- Cited in: Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. (PMID 16088907)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)