V157A (p.Val157Ala) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
V157A (p.Val157Ala) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V157A (p.Val157Ala) variant details
- p.Val157Ala
- gnomAD rs1363459886
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.30
- MetaLR 0.35
- MetaSVM -0.27
- CADD 29.20
- PolyPhen-2 0.55
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available