V20D (p.Val20Asp) variant of VHL (P40337)
V20D (p.Val20Asp) 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; Chuvash polycythemia; Von Hippel-Lindau. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
V20D (p.Val20Asp) variant details
- p.Val20Asp
- rs929332564
- ClinGen CA351747322
- ClinVar RCV002025581
- ClinVar RCV005772327
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.08
- MetaLR 0.29
- MetaSVM -0.73
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.17
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Likely benign
- UniProt: Likely benign
- 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)