L169V (p.Leu169Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L169V (p.Leu169Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L169V (p.Leu169Val) variant details
- p.Leu169Val
- gnomAD rs1225000839
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.77
- MetaLR 0.83
- MetaSVM 0.76
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.02
- Population evidence available
- Structural context available