A119G (p.Ala119Gly) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A119G (p.Ala119Gly) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A119G (p.Ala119Gly) variant details
- p.Ala119Gly
- gnomAD rs1381645352
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.31
- MetaLR 0.28
- MetaSVM -0.71
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.81
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available