| Term Name: | rare_amino_acid_variant |
|---|---|
| Synonyms: | Jannovar:rare_amino_acid_variant, rare amino acid variant, snpEff:RARE_AMINO_ACID |
| Definition: | A sequence variant whereby at least one base of a codon encoding a rare amino acid is changed, resulting in a different encoded amino acid. |
| Ontology: | Sequence Ontology [SO:0002008] |