This variant is strongly associated with causing the “taster” phenotype of phenylthiocarbamine (PTC) in a dominant manner.
Schuster et al note: Further analysis of 12 Bushmen made possible by
inclusion of the Ala262Val and Isl296Val variants on the Illumina 1M SNP array identified all of
them as PAV for the bitter taste sense contributing alleles. The apparent fixation of these alleles
is suggestive of strong selection for acute taste discrimination in a hunter-gatherer, perhaps to
avoid toxic plants, but that selection has been relaxed in other populations.
They studied the effect of three nonsynonymous variants in this gene on PTC taste sensitivity. The “taster” haplotype for positions 49, 262, and 296 is “PAV”, the “nontaster” haplotype is “AVI” — thus, this variant is associated with the PTC taster group. Individuals carrying at least one copy of “PAV” were overwhelmingly likely to be “taster” (98%).