L94Q (p.Leu94Gln) variant of CYP3A5 (Cytochrome P450 3A5)
L94Q (p.Leu94Gln) in CYP3A5 (Cytochrome P450 3A5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L94Q (p.Leu94Gln) variant details
- p.Leu94Gln
- ExAC rs752003788
- TOPMed rs752003788
- gnomAD rs752003788
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.73
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available