D152E (p.Asp152Glu) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
D152E (p.Asp152Glu) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D152E (p.Asp152Glu) variant details
- p.Asp152Glu
- ExAC rs766350147
- gnomAD rs766350147
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.58
- MetaLR 0.52
- MetaSVM 0.05
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available