G691R (p.Gly691Arg) variant of ATP7B (Copper-transporting ATPase 2)
G691R (p.Gly691Arg) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G691R (p.Gly691Arg) variant details
- p.Gly691Arg
- rs121908001
- ClinGen CA252903
- ClinVar RCV000004070
- Ensembl rs121908001
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.09
- CADD 26.60
- 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: Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease. (PMID 17718866)
- Cited in: Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. (PMID 9671269)