R616W (p.Arg616Trp) variant of ATP7B (Copper-transporting ATPase 2)
R616W (p.Arg616Trp) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R616W (p.Arg616Trp) variant details
- p.Arg616Trp
- rs374172791
- ClinGen CA6989213
- ClinVar RCV001069979
- ClinVar RCV001508349
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.84
- MetaSVM 0.84
- CADD 27.10
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by… (PMID 11690702)
- Cited in: Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of… (PMID 17919502)