Y23H (p.Tyr23His) variant of VHL (P40337)
Y23H (p.Tyr23His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Y23H (p.Tyr23His) variant details
- p.Tyr23His
- rs1696118253
- ClinGen CA351747387
- ClinVar RCV001891842
- Ensembl rs1696118253
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.20
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.73
- CADD 6.39
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)