A2V (p.Ala2Val) variant of CYP3A4 (Cytochrome P450 3A4)
A2V (p.Ala2Val) in CYP3A4 (Cytochrome P450 3A4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- 1000Genomes rs371360704
- ESP rs371360704
- ExAC rs371360704
- TOPMed rs371360704
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 12.90
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)