R82C (p.Arg82Cys) variant of VHL (P40337)
R82C (p.Arg82Cys) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau. 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.
R82C (p.Arg82Cys) variant details
- p.Arg82Cys
- rs1214305423
- ClinGen CA351750541
- cosmic curated COSV56572
- ClinVar RCV001201863
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.94
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 0.97
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)