rare_amino_acid_variant (CURRENT_RELEASE) |
|
|---|---|
| SO Accession: | SO:0002008 (SOWiki) |
| 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. |
| Synonyms: | Jannovar:rare_amino_acid_variant, rare amino acid variant, snpEff:RARE_AMINO_ACID |
| DB Xrefs: | SO: ke |
| Parent: | non_conservative_missense_variant (SO:0001586) |
| Children: | selenocysteine_loss (SO:0002009) |
| pyrrolysine_loss (SO:0002010) | |
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