R3W (p.Arg3Trp) variant of VHL (P40337)
R3W (p.Arg3Trp) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- rs878854130
- ClinGen CA10582110
- ClinVar RCV000226904
- ClinVar RCV002418000
- Conflicting interpretations
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.16
- AlphaMissense 0.15
- MetaLR 0.31
- MetaSVM -0.78
- CADD 14.80
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)