A3D (p.Ala3Asp) variant of CYP2E1 (Cytochrome P450 2E1)
A3D (p.Ala3Asp) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 10-133527403-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.18
- MetaLR 0.23
- MetaSVM -0.89
- CADD 15.80
- PolyPhen-2 0.64
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available