P154L (p.Pro154Leu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
P154L (p.Pro154Leu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
P154L (p.Pro154Leu) variant details
- p.Pro154Leu
- ExAC rs762665681
- TOPMed rs762665681
- gnomAD rs762665681
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.87
- MetaLR 0.80
- MetaSVM 0.80
- CADD 29.30
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available