A18V (p.Ala18Val) variant of VHL (P40337)
A18V (p.Ala18Val) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs1553619302
- ClinGen CA351747282
- ClinVar RCV000527264
- ClinVar RCV002350176
- Conflicting interpretations
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.17
- AlphaMissense 0.09
- MetaLR 0.34
- MetaSVM -0.72
- CADD 6.15
- PolyPhen-2 0.08
- ClinVar: Conflicting classifications of pathogenicity (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Likely benign
- UniProt: Likely benign
- 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)