CYP3A5 (Cytochrome P450 3A5) variants and mutations

CYP3A5 (also known as Cytochrome P450 3A5) is a human protein-coding gene encoding a cytochrome P450 3A5 protein. It contributes to CYP3A-mediated drug metabolism in individuals who express functional enzyme, with large genotype-dependent differences in abundance. CYP3A5 genotype is particularly important for tacrolimus clearance and dose requirements. This analysis covers 785 CYP3A5 variants and mutations. Of these, 18% have clinical classifications, 79% have computational variant effect predictions from REVEL, and 67% have population-specific frequency data. Disease context includes HIV infectious disease, HIV-1 infection, and hepatitis C virus infection. Example CYP3A5 variants include L3I, P5Q, and L7S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CYP3A5 variants

Examples include L3I, P5Q, L7S, A8V, V9E, V9L, E10K, W12*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.