G943S (p.Gly943Ser) variant of ATP7B (Copper-transporting ATPase 2)
G943S (p.Gly943Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G943S (p.Gly943Ser) variant details
- p.Gly943Ser
- rs28942076
- ClinGen CA252894
- NCI-TCGA Cosmic COSV5444
- cosmic curated COSV54442
- Pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. (PMID 10942420)
- Cited in: Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight… (PMID 15952988)