L45P (p.Leu45Pro) variant of CYP2E1 (Cytochrome P450 2E1)
L45P (p.Leu45Pro) 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.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- gnomAD 10-133527529-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.55
- MetaLR 0.49
- MetaSVM -0.45
- CADD 23.50
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available