A62S (p.Ala62Ser) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
A62S (p.Ala62Ser) 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.
A62S (p.Ala62Ser) variant details
- p.Ala62Ser
- ExAC rs779766189
- TOPMed rs779766189
- gnomAD rs779766189
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.05
- AlphaMissense 0.09
- MetaLR 0.54
- MetaSVM -0.55
- CADD 7.55
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available