S18A (p.Ser18Ala) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
S18A (p.Ser18Ala) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S18A (p.Ser18Ala) variant details
- p.Ser18Ala
- gnomAD rs1006063551
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -1.01
- CADD 21.60
- PolyPhen-2 0.02
- SIFT 0.58
- Population evidence available
- Structural context available