L77F (p.Leu77Phe) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L77F (p.Leu77Phe) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L77F (p.Leu77Phe) variant details
- p.Leu77Phe
- gnomAD rs1213473126
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.29
- MetaLR 0.35
- MetaSVM -0.51
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available