P156L (p.Pro156Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
P156L (p.Pro156Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P156L (p.Pro156Leu) variant details
- p.Pro156Leu
- ESP rs146573154
- ExAC rs146573154
- TOPMed rs146573154
- gnomAD rs146573154
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.40
- MetaLR 0.60
- MetaSVM 0.03
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available