Y23D (p.Tyr23Asp) variant of VHL (P40337)
Y23D (p.Tyr23Asp) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
Y23D (p.Tyr23Asp) variant details
- p.Tyr23Asp
- rs1696118253
- ClinGen CA351747388
- ClinVar RCV002001124
- ClinVar RCV004946996
- Conflicting interpretations
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.73
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.39
- ClinVar: Conflicting classifications of pathogenicity (Von Hippel-Lindau syndrome; Chuvash polycythemia; Pheochromocyto)
- EBI: Likely benign
- UniProt: Likely benign
- 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)