P34L (p.Pro34Leu) variant of CYP2E1 (Cytochrome P450 2E1)
P34L (p.Pro34Leu) 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, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- gnomAD 10-133527496-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.39
- MetaLR 0.78
- MetaSVM 0.75
- CADD 26.00
- 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