missense variant

Pronunciation:(MIS-sens VAYR-ee-unt)

Definition: A genetic alteration in which a single base pair substitution alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense variants (or mutations) will alter the function of the protein. Also called missense mutation.GeneticsHealth professional

2016-09-28Missense Mutation