R778G (p.Arg778Gly) variant of ATP7B (Copper-transporting ATPase 2)
R778G (p.Arg778Gly) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R778G (p.Arg778Gly) variant details
- p.Arg778Gly
- rs137853284
- ClinGen CA270733
- ClinVar RCV000144367
- ClinVar RCV001092072
- Pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 0.95
- CADD 27.80
- ClinVar: Pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel… (PMID 11216666)
- Cited in: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PMID 15967699)