D123E (p.Asp123Glu) variant of CYP3A5 (Cytochrome P450 3A5)
D123E (p.Asp123Glu) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D123E (p.Asp123Glu) variant details
- p.Asp123Glu
- ExAC rs746469422
- gnomAD rs746469422
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.43
- CADD 23.80
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available