H27D (p.His27Asp) variant of CYP2E1 (Cytochrome P450 2E1)
H27D (p.His27Asp) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
H27D (p.His27Asp) variant details
- p.His27Asp
- gnomAD 10-133527474-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.04
- MetaLR 0.18
- MetaSVM -0.95
- CADD 6.80
- PolyPhen-2 0.08
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available