p.Trp13 Val20del variant of CYP2E1 (Cytochrome P450 2E1)
p.Trp13 Val20del in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
p.Trp13 Val20del variant details
- gnomAD 10-133527421-CCCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 16.40
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available