P2S (p.Pro2Ser) variant of VHL (P40337)
P2S (p.Pro2Ser) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- rs1034974221
- ClinGen CA70042126
- ClinVar RCV000696229
- ClinVar RCV000997984
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.21
- MetaLR 0.34
- MetaSVM -0.62
- CADD 17.10
- PolyPhen-2 0.06
- SIFT 0.05
- 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 5.1e-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)