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A genetic variant where a base change results in a change in the amino acid that is encoded.

Use in clinical context

Missense variants always result in a different amino acid being produced, but they can have a range of functional implications. For example, missense variants in the gene NF1 result in neurofibromatosis type 1, but not all of them have the same effect: some can result in severe presentation while others are comparatively mild. This is because some parts of a protein are more critical to protein function than others. For this reason, missense variants detected in the genome may be the cause of a genetic condition, but additional investigation is required to confirm this.

Last updated on 16th November, 2021