D118A (p.Asp118Ala) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
D118A (p.Asp118Ala) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D118A (p.Asp118Ala) variant details
- p.Asp118Ala
- 1000Genomes rs528523424
- ExAC rs528523424
- TOPMed rs528523424
- gnomAD rs528523424
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.44
- MetaLR 0.45
- MetaSVM -0.26
- CADD 23.40
- PolyPhen-2 0.07
- SIFT 0.06
- Most common in the 1KG:PEL population (allele frequency 0.012)
- Structural context available