D130E (p.Asp130Glu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
D130E (p.Asp130Glu) 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.
D130E (p.Asp130Glu) variant details
- p.Asp130Glu
- ExAC rs747490076
- TOPMed rs747490076
- gnomAD rs747490076
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.11
- MetaLR 0.20
- MetaSVM -0.88
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available