Y112H (p.Tyr112His) variant of VHL (P40337)
Y112H (p.Tyr112His) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of VHL-related disorder; Hereditary cancer-predisposing syndrome; Chuvash polycythe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
Y112H (p.Tyr112His) variant details
- p.Tyr112His
- rs104893824
- Civic 1865
- ClinGen CA020277
- ClinVar RCV000002308
- Pathogenic/Likely pathogenic
- VHL-related disorder; Hereditary cancer-predisposing syndrome; Chuvash polycythe
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.53
- ClinVar: Pathogenic/Likely pathogenic (VHL-related disorder; Hereditary cancer-predisposing syndrome; C)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Familial pheochromocytoma. (PMID 13985160)
- Cited in: Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease? (PMID 8239848)