Term Name: | missense_variant |
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Synonyms: | ANNOVAR:nonsynonymous SNV, Jannovar:missense_variant, missense, missense codon, non_synonymous_coding, Seattleseq:missense, Seattleseq:missense-near-splice, snpEff:NON_SYNONYMOUS_CODING, VAAST:missense_variant, VAAST:non_synonymous_codon, VAT:nonsynonymous, VEP:missense_variant |
Definition: | A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved. |
Ontology: | Sequence Ontology [SO:0001583] |