Term Name: | rare_amino_acid_variant |
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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] |