Y112C (p.Tyr112Cys) variant of VHL (P40337)
Y112C (p.Tyr112Cys) 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; Von Hippel-Lindau syndrome; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y112C (p.Tyr112Cys) variant details
- p.Tyr112Cys
- rs869025633
- ClinGen CA357115
- cosmic curated COSV56544
- ClinVar RCV000208852
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.93
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.05
- CADD 30.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)