C162Y (p.Cys162Tyr) variant of VHL (P40337)
C162Y (p.Cys162Tyr) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Von Hippel-Lindau syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
C162Y (p.Cys162Tyr) variant details
- p.Cys162Tyr
- rs397516444
- ClinGen CA357010
- NCI-TCGA Cosmic COSV5654
- cosmic curated COSV56546
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Von Hippel-Lindau syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Von H)
- 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: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)