E124D (p.Glu124Asp) variant of CYP3A5 (Cytochrome P450 3A5)
E124D (p.Glu124Asp) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E124D (p.Glu124Asp) variant details
- p.Glu124Asp
- ExAC rs779681386
- TOPMed rs779681386
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- REVEL 0.07
- CADD 5.99
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available