Q47H (p.Gln47His) variant of CYP2E1 (Cytochrome P450 2E1)
Q47H (p.Gln47His) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q47H (p.Gln47His) variant details
- p.Gln47His
- gnomAD 10-133527536-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.20
- MetaLR 0.33
- MetaSVM -0.65
- CADD 4.29
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available