A5T (p.Ala5Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A5T (p.Ala5Thr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- TOPMed rs312262909
- gnomAD rs312262909
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.06
- MetaLR 0.44
- MetaSVM -0.17
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available