E122Q (p.Glu122Gln) variant of CYP3A4 (Cytochrome P450 3A4)
E122Q (p.Glu122Gln) in CYP3A4 (Cytochrome P450 3A4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E122Q (p.Glu122Gln) variant details
- p.Glu122Gln
- TOPMed rs1815592672
- gnomAD rs1815592672
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 0.32
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available