OBO ID: SO:0001583

Term Name:	missense_variant		Search Ontology:
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.
References:	EBI:www.ebi.ac.uk/mutations/recommendations/mutevent.html http://en.wikipedia.org/wiki/Missense_mutation http://snp.gs.washington.edu/SeattleSeqAnnotation137/HelpHowToUse.jsp http://snpeff.sourceforge.net/SnpEff_manual.html http://vat.gersteinlab.org/formats.php http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences loinc:LA6698-0
Ontology:	Sequence Ontology