Y98H (p.Tyr98His) variant of VHL (P40337)
Y98H (p.Tyr98His) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y98H (p.Tyr98His) variant details
- p.Tyr98His
- rs5030809
- ClinGen CA020246
- ClinVar RCV000002309
- ClinVar RCV000492094
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.88
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.69
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in PCC and VHLD)
- UniProt: Pathogenic (in PCC and VHLD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality. (PMID 11483638)
- Cited in: Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease. (PMID 11709017)