A117V (p.Ala117Val) variant of CYP3A4 (Cytochrome P450 3A4)
A117V (p.Ala117Val) 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 0.74 / 1. The record also includes population frequency data.
A117V (p.Ala117Val) variant details
- p.Ala117Val
- rs747540614
- ExAC rs747540614
- gnomAD rs747540614
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 22.90
- PolyPhen-2 0.34
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)