A3S (p.Ala3Ser) variant of CYP2E1 (Cytochrome P450 2E1)
A3S (p.Ala3Ser) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 10-133527402-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.08
- MetaLR 0.18
- MetaSVM -0.98
- CADD 10.90
- PolyPhen-2 0.20
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available