R778Q (p.Arg778Gln) variant of ATP7B (Copper-transporting ATPase 2)
R778Q (p.Arg778Gln) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R778Q (p.Arg778Gln) variant details
- p.Arg778Gln
- rs28942074
- ClinGen CA501036
- cosmic curated COSV54435
- ClinVar RCV000665805
- Pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.92
- MetaSVM 1.04
- CADD 27.40
- ClinVar: Pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with… (PMID 11405812)
- Cited in: Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. (PMID 17949296)