E122D (p.Glu122Asp) variant of CYP3A4 (Cytochrome P450 3A4)
E122D (p.Glu122Asp) in CYP3A4 (Cytochrome P450 3A4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E122D (p.Glu122Asp) variant details
- p.Glu122Asp
- ExAC rs755966203
- gnomAD rs755966203
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 3.41
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available