A54T (p.Ala54Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A54T (p.Ala54Thr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- ESP rs372343694
- ExAC rs372343694
- TOPMed rs372343694
- gnomAD rs372343694
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.05
- AlphaMissense 0.20
- MetaLR 0.54
- MetaSVM -0.02
- CADD 10.50
- PolyPhen-2 0.03
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available