A39S (p.Ala39Ser) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A39S (p.Ala39Ser) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- ExAC rs749892526
- TOPMed rs749892526
- gnomAD rs749892526
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.97
- CADD 21.70
- PolyPhen-2 0.04
- SIFT 0.74
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available