E49K (p.Glu49Lys) variant of CYP2E1 (Cytochrome P450 2E1)
E49K (p.Glu49Lys) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- gnomAD 10-133527524-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 5.53
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available