A172T (p.Ala172Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A172T (p.Ala172Thr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A172T (p.Ala172Thr) variant details
- p.Ala172Thr
- gnomAD rs1819826530
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.09
- MetaLR 0.21
- MetaSVM -0.85
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.35
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available