R161G (p.Arg161Gly) variant of VHL (P40337)
R161G (p.Arg161Gly) 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 0.96 / 1. The record also includes published literature and structural context.
R161G (p.Arg161Gly) variant details
- p.Arg161Gly
- rs5030818
- ClinGen CA16621941
- cosmic curated COSV56564
- ClinVar RCV000756901
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- MutPred 0.96
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from… (PMID 8707293)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)