E22V (p.Glu22Val) variant of VHL (P40337)
E22V (p.Glu22Val) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
E22V (p.Glu22Val) variant details
- p.Glu22Val
- rs2125124570
- ClinGen CA351747381
- ClinVar RCV003360626
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.08
- MetaLR 0.54
- MetaSVM -0.44
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.22
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)