Y112S (p.Tyr112Ser) variant of VHL (P40337)
Y112S (p.Tyr112Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
Y112S (p.Tyr112Ser) variant details
- p.Tyr112Ser
- rs869025633
- ClinGen CA351751356
- ClinVar RCV002321045
- ClinVar RCV005213662
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in 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)