P54L (p.Pro54Leu) variant of CYP2E1 (Cytochrome P450 2E1)
P54L (p.Pro54Leu) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- ExAC rs750499891
- gnomAD rs750499891
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.75
- CADD 22.00
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available