L60M (p.Leu60Met) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L60M (p.Leu60Met) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L60M (p.Leu60Met) variant details
- p.Leu60Met
- gnomAD rs1293347153
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.14
- AlphaMissense 0.08
- MetaLR 0.64
- MetaSVM -0.18
- CADD 21.70
- PolyPhen-2 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available