L129I (p.Leu129Ile) variant of CYP3A4 (Cytochrome P450 3A4)
L129I (p.Leu129Ile) in CYP3A4 (Cytochrome P450 3A4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
L129I (p.Leu129Ile) variant details
- p.Leu129Ile
- 1000Genomes rs551809042
- ExAC rs551809042
- TOPMed rs551809042
- gnomAD rs551809042
- Missense
- Variant Prioritization Score for Impact Estimate 0.0781
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:PJL population (allele frequency 0.0052)