L165* (p.Leu165Ter) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L165* (p.Leu165Ter) in CYP51A1 (Lanosterol 14-alpha demethylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L165* (p.Leu165Ter) variant details
- p.Leu165Ter
- ExAC rs750224776
- gnomAD rs750224776
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 36.00
- Population evidence available
- Structural context available