K85E (p.Lys85Glu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
K85E (p.Lys85Glu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K85E (p.Lys85Glu) variant details
- p.Lys85Glu
- Ensembl rs1819926502
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.15
- MetaLR 0.24
- MetaSVM -0.75
- CADD 24.80
- PolyPhen-2 0.04
- SIFT 0.57
- Population evidence available
- Structural context available