G1266R (p.Gly1266Arg) variant of ATP7B (Copper-transporting ATPase 2)
G1266R (p.Gly1266Arg) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G1266R (p.Gly1266Arg) variant details
- p.Gly1266Arg
- rs121907992
- ClinGen CA252890
- ClinVar RCV000004053
- ClinVar RCV001507825
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- CADD 26.50
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: A study of Wilson disease mutations in Britain. (PMID 10502777)
- Cited in: Molecular diagnosis of Wilson disease. (PMID 11243728)