Table 3.
Variant and allele frequencies in the human CYP2C19 family among various ethnicities. Adapted from [49], used with permission of Creative Commons; copyright 2017.
| Allele | Defining Variants | Variant Type | Allele Frequencies in Indicated Populations, % | Functional Consequence | ||||
|---|---|---|---|---|---|---|---|---|
| EUR | AFR | EAS | SAS | AMR | ||||
| *1 | None | 59.2 | 44.5 | 60.5 | 51.9 | 77 | ||
| *2 | rs4244285 | Splicing defect | 18.3 | 18.1 | 31 | 34 | 10.1 | Inactive |
| *3 | rs4986893 | Stop-gain (W212X) | <0.1 | <0.1 | 6.7 | 0.4 | <0.1 | Inactive |
| *4 | rs28399504 | Start lost | 0 | <0.1 | <0.1 | <0.1 | 0.2 | Inactive |
| *5 | rs56337013 | Missense (R433W) | 0 | 0 | 0 | <0.1 | 0 | Inactive |
| *6 | rs72552267 | Missense (R132Q) | 0 | 0 | <0.1 | 0 | <0.1 | Inactive |
| *7 | rs72558186 | Splicing defect | 0 | 0 | 0 | <0.1 | 0 | Inactive b |
| *8 | rs41291556 | Missense (W120R) | <0.1 | <0.1 | 0 | <0.1 | <0.1 | Inactive |
| *9 | rs17884712 | Missense (R144H) | 0 | 1.2 | 0 | <0.1 | <0.1 | |
| *10 | rs6413438 | Missense (P227L) | 0 | 0.4 | <0.1 | 0 | <0.1 | Decreased a |
| *12 | rs55640102 | Stop-lost (X491C) | 0 | <0.1 | 0 | 0 | 0 | Decreased a |
| *13 | rs17879685 | Missense (R410C) | 0 | 1.6 | 0 | <0.1 | 0.1 | |
| *15 | rs17882687 | Missense (I19L) | 0 | 2 | 0 | <0.1 | <0.1 | |
| *16 | rs192154563 | Missense (R442C) | 0 | <0.1 | 0 | <0.1 | 0 | |
| *17 | rs12248560 | Regulatory | 22.4 | 23.5 | 1.5 | 13.6 | 12 | Increased |
| *22 | rs140278421 | Missense (R186P) | 0 | 0.1 | 0 | 0 | <0.1 | |
| *23 | rs118203756 | Missense (G91R) | 0 | 0 | <0.1 | 0 | 0 | |
| *24 | rs118203757 | Missense (R335Q) | 0 | <0.1 | 0 | <0.1 | <0.1 | |
| *25 | rs118203759 | Missense (F448L) | 0 | 0 | 0 | 0 | 0 | |
| *27 | rs7902257 | Regulatory | 0.1 | 8.3 | 0.1 | 0 | 0.3 | Decreased a |
AFR, Africans; AMR, admixed Americans; CYP, cytochrome P450; EAS, East Asians; EUR, Europeans; SAS, South Asians. For references describing the functional characterization of the indicated alleles, see [142]. a Indicates alleles whose functionality assessment is based solely on in vitro data. b Indicates alleles whose functionality assessment is based solely on in vivo data.