E96G (p.Glu96Gly) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
E96G (p.Glu96Gly) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E96G (p.Glu96Gly) variant details
- p.Glu96Gly
- rs756695149
- ClinGen CA4338626
- ClinVar RCV002601876
- ExAC rs756695149
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.40
- MetaLR 0.29
- MetaSVM -0.38
- CADD 25.70
- PolyPhen-2 0.24
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available