R167P (p.Arg167Pro) variant of VHL (P40337)
R167P (p.Arg167Pro) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing. The record also includes published literature and structural context.
R167P (p.Arg167Pro) variant details
- p.Arg167Pro
- rs5030821
- ClinGen CA351756177
- NCI-TCGA Cosmic COSV5654
- NCI-TCGA Cosmic COSV5655
- Pathogenic/Likely pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Pathogenic (in PCC and VHLD)
- UniProt: Pathogenic (in PCC and 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)