If 60 out of 80 individuals who carry a pathogenic variant show the phenotype, penetrance is what percent?

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Multiple Choice

If 60 out of 80 individuals who carry a pathogenic variant show the phenotype, penetrance is what percent?

Penetrance is the proportion of individuals who carry a pathogenic variant and actually express the associated phenotype. Here, three-quarters of the carriers show the phenotype, so penetrance is 75%. This reflects incomplete penetrance, since not every carrier expresses the trait. Remember, penetrance is about whether the phenotype appears at all; expressivity, by contrast, concerns how strongly or in what form it presents among those who do express it.

Penetrance is the proportion of individuals who carry a pathogenic variant and actually express the associated phenotype. Here, three-quarters of the carriers show the phenotype, so penetrance is 75%. This reflects incomplete penetrance, since not every carrier expresses the trait. Remember, penetrance is about whether the phenotype appears at all; expressivity, by contrast, concerns how strongly or in what form it presents among those who do express it.

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