S18* (p.Ser18Ter) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
S18* (p.Ser18Ter) in CYP51A1 (Lanosterol 14-alpha demethylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S18* (p.Ser18Ter) variant details
- p.Ser18Ter
- ExAC rs769042342
- TOPMed rs769042342
- gnomAD rs769042342
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 35.00
- Population evidence available
- Structural context available