R969W (p.Arg969Trp) variant of ATP7B (Copper-transporting ATPase 2)
R969W (p.Arg969Trp) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R969W (p.Arg969Trp) variant details
- p.Arg969Trp
- rs774028495
- ClinGen CA6988868
- ClinVar RCV000434557
- ClinVar RCV000780936
- Conflicting interpretations
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Wilson disease)
- EBI: Likely pathogenic (in WD)
- UniProt: Likely pathogenic (in WD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. (PMID 17949296)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)