C162R (p.Cys162Arg) variant of VHL (P40337)
C162R (p.Cys162Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
C162R (p.Cys162Arg) variant details
- p.Cys162Arg
- rs1553620313
- Civic 1772
- ClinGen CA351756117
- NCI-TCGA Cosmic COSV5654
- Pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- MutPred 0.89
- ClinVar: Pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. (PMID 8956040)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)