P40L (p.Pro40Leu) variant of CYP2E1 (Cytochrome P450 2E1)
P40L (p.Pro40Leu) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- gnomAD rs979091921
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.47
- MetaLR 0.62
- MetaSVM 0.38
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available