G711R (p.Gly711Arg) variant of ATP7B (Copper-transporting ATPase 2)
G711R (p.Gly711Arg) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G711R (p.Gly711Arg) variant details
- p.Gly711Arg
- rs1394999756
- ClinGen CA388023479
- ClinVar RCV000586389
- ClinVar RCV003326468
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.72
- MetaSVM 0.79
- CADD 24.60
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. (PMID 10544227)
- Cited in: Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. (PMID 8931691)