Glossary Term

Missense Mutation

PCR TermsEN

Definition

A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.

Extended Notes

Source: National Cancer Institute, NCI Thesaurus 26.09d, C18133. NCI definition, reproduced without modification under CC BY 4.0. Source identity and definition checked automatically on 2026-10-20. No individual clinical interpretation or human reviewer is asserted.

Also Known As

Exon Non-Synonymous MutationExonic Non-Synonymous MutationMissense MutationMissense Mutation AbnormalityMissense VariantMutation, MissenseNon-Synonymous MutationSubstitution Mutation

References

NCI Thesaurus 26.09d — Missense Mutation (C18133)
Source: National Cancer Institute, NCI Thesaurus 26.09d, C18133. NCI definition, reproduced without modification under CC BY 4.0.