P147L (p.Pro147Leu) variant of CYP3A4 (Cytochrome P450 3A4)
P147L (p.Pro147Leu) in CYP3A4 (Cytochrome P450 3A4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
P147L (p.Pro147Leu) variant details
- p.Pro147Leu
- TOPMed rs1043942350
- gnomAD rs1043942350
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 22.60
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00013)