missense_variant SO_0001583
missense_variant
ID: SO_0001583
Class
A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved.
EBI term: Non-synonymous SNPs. SNPs that are located in the coding sequence and result in an amino acid change in the encoded peptide sequence. A change that causes a non_synonymous_codon can be more than 3 bases - for example 4 base substitution.
Open in VFB 3D Browser →Classification
Alternative Names
| Synonym | Scope | Reference |
|---|---|---|
| Seattleseq:missense-near-splice | related synonym | VAR |
| ANNOVAR:nonsynonymous SNV | related synonym | //www.openbioinformatics.org/annovar/annovar_download.html |
| Jannovar:missense_variant | exact synonym | //doc-openbio.readthedocs.org/projects/jannovar/en/master/var_effects.html |
| snpEff:NON_SYNONYMOUS_CODING | exact synonym | VAR |
| missense | exact synonym | //ftp.ncbi.nih.gov/snp/specs/docsum_3.1.xsd |
| VAT:nonsynonymous | exact synonym | VAR |
| Seattleseq:missense | exact synonym | VAR |
| VAAST:missense_variant | exact synonym | VAR |
| missense codon | exact synonym | |
| VEP:missense_variant | exact synonym | VAR |
| VAAST:non_synonymous_codon | related synonym | VAR |