R64H (p.Arg64His) variant of VHL (P40337)
R64H (p.Arg64His) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R64H (p.Arg64His) variant details
- p.Arg64His
- rs104893826
- ClinGen CA020083
- ClinVar RCV000123103
- ClinVar RCV001588972
- Conflicting interpretations
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.80
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- CADD 29.40
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Pathogenic (in PCC)
- UniProt: Pathogenic (in PCC)
- Population evidence available
- 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)