G710A (p.Gly710Ala) variant of ATP7B (Copper-transporting ATPase 2)
G710A (p.Gly710Ala) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G710A (p.Gly710Ala) variant details
- p.Gly710Ala
- rs1555291285
- ClinGen CA388023486
- ClinVar RCV000666574
- UniProt VAR 010010
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.88
- MetaSVM 0.94
- CADD 23.50
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by… (PMID 11690702)
- Cited in: His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. (PMID 9887381)