E10V (p.Glu10Val) variant of VHL (P40337)
E10V (p.Glu10Val) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- rs786204065
- ClinGen CA020251
- ClinVar RCV000167948
- ClinVar RCV003462253
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.27
- AlphaMissense 0.12
- MetaLR 0.33
- MetaSVM -0.66
- CADD 18.60
- PolyPhen-2 0.70
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)