F76Y (p.Phe76Tyr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
F76Y (p.Phe76Tyr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F76Y (p.Phe76Tyr) variant details
- p.Phe76Tyr
- gnomAD rs1230760264
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.40
- MetaLR 0.26
- MetaSVM -0.57
- CADD 28.90
- PolyPhen-2 0.16
- SIFT 0.14
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available