H115R (p.His115Arg) variant of VHL (P40337)
H115R (p.His115Arg) 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 0.88 / 1. The record also includes published literature and structural context.
H115R (p.His115Arg) variant details
- p.His115Arg
- rs5030812
- ClinGen CA70049376
- ClinVar RCV000822511
- ClinVar RCV003169035
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.80
- PolyPhen-2 1.00
- EVE 0.64
- MutPred 0.97
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from… (PMID 8707293)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)