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]

Relationships
is a type of: non_conservative_missense_variant
has subtype: pyrrolysine_loss selenocysteine_loss