G943D (p.Gly943Asp) variant of ATP7B (Copper-transporting ATPase 2)
G943D (p.Gly943Asp) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G943D (p.Gly943Asp) variant details
- p.Gly943Asp
- rs779323689
- ClinGen CA274329
- ClinVar RCV000169455
- ClinVar RCV001531800
- Pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 23.80
- 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 Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with… (PMID 11405812)
- Cited in: Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. (PMID 14966923)