G14D (p.Gly14Asp) variant of VHL (P40337)
G14D (p.Gly14Asp) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- rs1575921044
- ClinGen CA351747177
- cosmic curated COSV99846
- ClinVar RCV000798642
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.10
- MetaLR 0.56
- MetaSVM -0.40
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.25
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)