R778W (p.Arg778Trp) variant of ATP7B (Copper-transporting ATPase 2)
R778W (p.Arg778Trp) 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 Inborn genetic diseases; not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R778W (p.Arg778Trp) variant details
- p.Arg778Trp
- rs137853284
- ClinGen CA6989058
- cosmic curated COSV54441
- ClinVar RCV000532036
- Pathogenic
- Inborn genetic diseases; not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.02
- CADD 27.90
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. (PMID 10502776)
- Cited in: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. (PMID 10790207)