missense_variant [SO_0001583]

A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved.
Tags:

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.

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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

References