R3Q (p.Arg3Gln) variant of VHL (P40337)
R3Q (p.Arg3Gln) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs1178481595
- ClinGen CA351747018
- ClinVar RCV001901781
- ClinVar RCV002370494
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.14
- MetaLR 0.33
- MetaSVM -0.70
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)