G63E (p.Gly63Glu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
G63E (p.Gly63Glu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G63E (p.Gly63Glu) variant details
- p.Gly63Glu
- ExAC rs376480367
- TOPMed rs376480367
- gnomAD rs376480367
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.11
- MetaLR 0.12
- MetaSVM -1.02
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available