A3P (p.Ala3Pro) variant of CYP2E1 (Cytochrome P450 2E1)
A3P (p.Ala3Pro) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- gnomAD 10-133527402-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.21
- MetaLR 0.32
- MetaSVM -0.81
- CADD 17.20
- PolyPhen-2 0.64
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available