Y98C (p.Tyr98Cys) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
Y98C (p.Tyr98Cys) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Y98C (p.Tyr98Cys) variant details
- p.Tyr98Cys
- ExAC rs755424289
- TOPMed rs755424289
- gnomAD rs755424289
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.86
- MetaLR 0.53
- MetaSVM 0.08
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available