G114R (p.Gly114Arg) variant of VHL (P40337)
G114R (p.Gly114Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.97 / 1. The record also includes published literature and structural context.
G114R (p.Gly114Arg) variant details
- p.Gly114Arg
- rs869025636
- Civic 1857
- ClinGen CA357101
- NCI-TCGA Cosmic COSV5654
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- MutPred 0.91
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- 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)