Y69* (p.Tyr69Ter) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
Y69* (p.Tyr69Ter) in CYP51A1 (Lanosterol 14-alpha demethylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Y69* (p.Tyr69Ter) variant details
- p.Tyr69Ter
- ExAC rs774551272
- TOPMed rs774551272
- gnomAD rs774551272
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available