R4G (p.Arg4Gly) variant of VHL (P40337)
R4G (p.Arg4Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; 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.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- rs886057702
- ClinGen CA351747021
- ClinVar RCV001976403
- ClinVar RCV005772306
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.15
- MetaLR 0.34
- MetaSVM -0.63
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)