E144K (p.Glu144Lys) variant of CYP3A5 (Cytochrome P450 3A5)
E144K (p.Glu144Lys) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E144K (p.Glu144Lys) variant details
- p.Glu144Lys
- ESP rs144541701
- TOPMed rs144541701
- gnomAD rs144541701
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.30
- CADD 24.10
- PolyPhen-2 0.64
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available