NCIt related terms : Protein Altering Variant; Substitution;
NCIt definition : A point mutation occurring within the protein-coding region of a gene, and which codes
for a different amino acid than expected.;
Alternative definition : NCI-GLOSS: A single base pair substitution that 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 mutations will alter the function of the protein.;