P2L (p.Pro2Leu) variant of VHL (P40337)
P2L (p.Pro2Leu) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- rs111246617
- ClinGen CA020518
- ClinVar RCV000161089
- ClinVar RCV000168429
- Conflicting interpretations
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcin
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.27
- AlphaMissense 0.24
- MetaLR 0.33
- MetaSVM -0.70
- CADD 15.70
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Chuvash polycythemia; Von Hippel-Lindau syndrome; Nonpapillary r)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)