leaky mutation

A "leaky mutation" in genetics refers to a mutation that results in a protein with reduced, but not completely eliminated, function. This means that while the mutation alters the gene's normal activity, some level of the original function "leaks through" into the phenotype.1

Mutations are changes in an organism's genetic material. They can occur spontaneously due to errors in DNA replication or be caused by external factors like radiation or chemicals. These alterations can affect genes, which are segments of DNA that code for proteins. The impact of a mutation depends on where it occurs and whether it changes the protein's structure or function.21

While some mutations are silent or have no observable effect, others can lead to significant malfunctions, including genetic diseases or cancer. Leaky mutations represent a less severe outcome, where the altered protein still retains some capacity to perform its intended role.21