P2R (p.Pro2Arg) variant of VHL (P40337)
P2R (p.Pro2Arg) 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; Von Hippel-Lindau syndrome; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- rs111246617
- ClinGen CA16611054
- ClinVar RCV000460146
- ClinVar RCV002256271
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.29
- AlphaMissense 0.24
- MetaLR 0.33
- MetaSVM -0.70
- CADD 15.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)