L46M (p.Leu46Met) variant of CYP3A5 (Cytochrome P450 3A5)
L46M (p.Leu46Met) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L46M (p.Leu46Met) variant details
- p.Leu46Met
- ExAC rs748355697
- TOPMed rs748355697
- gnomAD rs748355697
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available