T105S (p.Thr105Ser) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
T105S (p.Thr105Ser) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T105S (p.Thr105Ser) variant details
- p.Thr105Ser
- ExAC rs750608351
- gnomAD rs750608351
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.31
- MetaLR 0.23
- MetaSVM -0.66
- CADD 25.60
- PolyPhen-2 0.48
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available