A15V (p.Ala15Val) variant of VHL (P40337)
A15V (p.Ala15Val) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs1159027899
- ClinGen CA351747200
- ClinVar RCV003786268
- ClinVar RCV004950674
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.17
- MetaLR 0.37
- MetaSVM -0.73
- CADD 9.21
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)