Y48H (p.Tyr48His) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
Y48H (p.Tyr48His) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Y48H (p.Tyr48His) variant details
- p.Tyr48His
- Ensembl rs1819992574
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.47
- MetaLR 0.19
- MetaSVM -0.82
- CADD 24.20
- PolyPhen-2 0.77
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available