E92Q (p.Glu92Gln) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
E92Q (p.Glu92Gln) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E92Q (p.Glu92Gln) variant details
- p.Glu92Gln
- Ensembl rs1819926215
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.22
- MetaLR 0.17
- MetaSVM -0.86
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.41
- Population evidence available
- Structural context available