F76L (p.Phe76Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
F76L (p.Phe76Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
F76L (p.Phe76Leu) variant details
- p.Phe76Leu
- Ensembl rs1375875402
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.39
- MetaLR 0.20
- MetaSVM -0.81
- CADD 26.10
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available