G691V (p.Gly691Val) variant of ATP7B (Copper-transporting ATPase 2)
G691V (p.Gly691Val) 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 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G691V (p.Gly691Val) variant details
- p.Gly691Val
- rs1555291801
- ClinGen CA388024694
- ClinVar RCV000671031
- TOPMed rs1555291801
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.08
- CADD 29.60
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)