H27Q (p.His27Gln) variant of CYP2E1 (Cytochrome P450 2E1)
H27Q (p.His27Gln) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H27Q (p.His27Gln) variant details
- p.His27Gln
- gnomAD 10-133527476-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.04
- MetaLR 0.20
- MetaSVM -0.96
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available