A3V (p.Ala3Val) variant of CYP2E1 (Cytochrome P450 2E1)
A3V (p.Ala3Val) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 10-133527403-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0917
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.04
- CADD 3.82
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available