Y98C (p.Tyr98Cys) variant of VHL (P40337)
Y98C (p.Tyr98Cys) 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 0.85 / 1. The record also includes published literature and structural context.
Y98C (p.Tyr98Cys) variant details
- p.Tyr98Cys
- rs864321643
- Civic 1933
- ClinGen CA357072
- cosmic curated COSV56562
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.62
- ClinVar: 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)