Table 2.
Definition of CYP2C19 metabolizer phenotype.
Allele1 | Genotype | Allele activity | Metabolizer phenotype | Frequency (pan-ethnic cohort) [33] |
---|---|---|---|---|
*1/*1 | Wild type (WT) | 2 active alleles | Normal | 41% |
Metabolizer (NM) | ||||
*1/*n | Heterozygous WT | 1 active allele | Intermediate | 21% |
1 inactive allele | Metabolizer (IM) | |||
*2/*2 or *n/*n | Homozygous mutant | 2 inactive alleles | Poor | 3% |
Metabolizer (PM) | ||||
*1/*17 | Heterozygous WT | 1 active allele | Extensive | 24% |
1 increased activity allele | Metabolizer (EM) | |||
*17/*17 | Homozygous mutant | 2 increased activity alleles | Ultrarapid | 4% |
Metabolizer (UM) | ||||
*2/*17 | Heterozygous mutant | 1 inactive allele | Normal metabolizer (NM) | 6% |
1 increased activity allele |
1 - *2, *3, *8, or *9 refer to loss-of-function (inactive) alleles; n – refers to any of the loss-of-function alleles.