H115Q (p.His115Gln) variant of VHL (P40337)
H115Q (p.His115Gln) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
H115Q (p.His115Gln) variant details
- p.His115Gln
- rs864622646
- Civic 1742
- ClinGen CA351753631
- NCI-TCGA Cosmic COSV5654
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.85
- PolyPhen-2 1.00
- EVE 0.63
- MutPred 0.96
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. (PMID 9829912)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)