P2A (p.Pro2Ala) variant of VHL (P40337)
P2A (p.Pro2Ala) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- rs1034974221
- ClinGen CA351747015
- ClinVar RCV001023393
- ClinVar RCV002551875
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.12
- MetaLR 0.35
- MetaSVM -0.62
- CADD 15.90
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome; 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)