Missense variant

{
  "id": "MLC-T-ONC-005408",
  "term": "Missense variant",
  "field": "Oncology and biomedicine",
  "definitions": [
    "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.",
    "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."
  ],
  "synonyms": [
    "missense mutation"
  ],
  "references": [
    "NCI Dictionary of Cancer Terms",
    "NCI Dictionary of Genetics Terms"
  ],
  "url": "https://mlchart.com/terminology/oncology/missense-variant/"
}