R3P (p.Arg3Pro) variant of VHL (P40337)
R3P (p.Arg3Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- rs1178481595
- ClinGen CA351747019
- ClinVar RCV000698072
- ClinVar RCV002257940
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.31
- MetaLR 0.32
- MetaSVM -0.69
- CADD 20.50
- PolyPhen-2 0.11
- SIFT 0.11
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)