A172V (p.Ala172Val) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A172V (p.Ala172Val) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A172V (p.Ala172Val) variant details
- p.Ala172Val
- ExAC rs776271983
- TOPMed rs776271983
- gnomAD rs776271983
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.16
- MetaLR 0.20
- MetaSVM -0.83
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available