missense pathogenic variants

Definition of missense variant

missense variant

(MIS-sens VAYR-ee-unt)
A change in the DNA sequence of a gene that results in one amino acid (protein building block) being replaced with an amino acid that is different from the usual one at that position in the gene. Some missense variants have little or no effect on the function of the protein, while others may change the function of the protein. Also called missense mutation.

Source: NCI Dictionary of Cancer Terms