A23T (p.Ala23Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A23T (p.Ala23Thr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD rs1434418422
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.04
- MetaLR 0.13
- MetaSVM -1.05
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available