L11P (p.Leu11Pro) variant of CYP2E1 (Cytochrome P450 2E1)
L11P (p.Leu11Pro) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- gnomAD 10-133527427-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.45
- MetaLR 0.45
- MetaSVM -0.49
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available