S45T (p.Ser45Thr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
S45T (p.Ser45Thr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S45T (p.Ser45Thr) variant details
- p.Ser45Thr
- Ensembl rs917785462
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.08
- MetaLR 0.16
- MetaSVM -0.93
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available