R167G (p.Arg167Gly) variant of VHL (P40337)
R167G (p.Arg167Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.96 / 1. The record also includes published literature and structural context.
R167G (p.Arg167Gly) variant details
- p.Arg167Gly
- rs5030820
- ClinGen CA020446
- NCI-TCGA Cosmic COSV5654
- cosmic curated COSV56545
- Pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- MutPred 0.96
- ClinVar: Pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. (PMID 7784063)
- Cited in: Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele… (PMID 8270255)