F83L (p.Phe83Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
F83L (p.Phe83Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
F83L (p.Phe83Leu) variant details
- p.Phe83Leu
- gnomAD rs1280033473
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.94
- MetaLR 0.67
- MetaSVM 0.44
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available