G710S (p.Gly710Ser) variant of ATP7B (Copper-transporting ATPase 2)
G710S (p.Gly710Ser) 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 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.
G710S (p.Gly710Ser) variant details
- p.Gly710Ser
- rs137853285
- ClinGen CA270731
- ClinVar RCV000144365
- ClinVar RCV000497757
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.66
- MetaSVM 0.34
- CADD 23.90
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. (PMID 10544227)
- Cited in: High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by… (PMID 11690702)