A41T (p.Ala41Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A41T (p.Ala41Thr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- ESP rs376664914
- ExAC rs376664914
- gnomAD rs376664914
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.04
- MetaLR 0.13
- MetaSVM -1.05
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available