D123E (p.Asp123Glu) variant of CYP3A4 (Cytochrome P450 3A4)
D123E (p.Asp123Glu) in CYP3A4 (Cytochrome P450 3A4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
D123E (p.Asp123Glu) variant details
- p.Asp123Glu
- ExAC rs781017870
- gnomAD rs781017870
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 19.10
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)