R3G (p.Arg3Gly) variant of VHL (P40337)
R3G (p.Arg3Gly) 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 0.39 / 1. The record also includes published literature and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- rs878854130
- ClinGen CA351747017
- ClinVar RCV001338748
- ClinVar RCV002418995
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.15
- MetaLR 0.31
- MetaSVM -0.78
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.33
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)