A2D (p.Ala2Asp) variant of CYP3A4 (Cytochrome P450 3A4)
A2D (p.Ala2Asp) in CYP3A4 (Cytochrome P450 3A4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- rs371360704
- 1000Genomes rs371360704
- ESP rs371360704
- ExAC rs371360704
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 1.44
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:ESN population (allele frequency 0.0049)