H79Y (p.His79Tyr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
H79Y (p.His79Tyr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H79Y (p.His79Tyr) variant details
- p.His79Tyr
- ESP rs375716835
- ExAC rs375716835
- TOPMed rs375716835
- gnomAD rs375716835
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.48
- MetaLR 0.27
- MetaSVM -0.66
- CADD 29.20
- PolyPhen-2 0.36
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available