L4I (p.Leu4Ile) variant of CYP2E1 (Cytochrome P450 2E1)
L4I (p.Leu4Ile) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- gnomAD 10-133527405-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.17
- MetaLR 0.22
- MetaSVM -0.80
- CADD 14.20
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available