A2E (p.Ala2Glu) variant of CYP1A2 (Cytochrome P450 1A2)
A2E (p.Ala2Glu) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 15-74749743-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.19
- CADD 18.00
- PolyPhen-2 0.68
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available