E96* (p.Glu96Ter) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
E96* (p.Glu96Ter) in CYP51A1 (Lanosterol 14-alpha demethylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E96* (p.Glu96Ter) variant details
- p.Glu96Ter
- Ensembl rs2130958012
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.881
- CADD 42.00
- Population evidence available
- Structural context available