L33S (p.Leu33Ser) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
L33S (p.Leu33Ser) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L33S (p.Leu33Ser) variant details
- p.Leu33Ser
- ExAC rs754634511
- TOPMed rs754634511
- gnomAD rs754634511
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.25
- MetaLR 0.14
- MetaSVM -1.01
- CADD 20.60
- PolyPhen-2 0.26
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available