A14A (p.Ala14Ala) variant of CYP2E1 (Cytochrome P450 2E1)
A14A (p.Ala14Ala) in CYP2E1 (Cytochrome P450 2E1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs375169910
- gnomAD 10-133527437-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 8.14
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available