D152G (p.Asp152Gly) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
D152G (p.Asp152Gly) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
D152G (p.Asp152Gly) variant details
- p.Asp152Gly
- ESP rs371492794
- ExAC rs371492794
- TOPMed rs371492794
- gnomAD rs371492794
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.86
- MetaLR 0.49
- MetaSVM 0.05
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available