L19P (p.Leu19Pro) variant of CYP2E1 (Cytochrome P450 2E1)
L19P (p.Leu19Pro) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- ExAC rs780358119
- gnomAD rs780358119
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.32
- MetaLR 0.31
- MetaSVM -0.79
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available