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Missense Variant

Definition
AI-generated

A missense variant is a coding variant that changes the amino acid specified by a codon.

Topics
Core genetics
Related
Loss-of-Function Variant Nonsense Variant Synonymous Variant

Why it matters in GWAS

Missense variants are often prioritized in fine-mapping and annotation because they provide a direct protein-altering hypothesis for the association signal.

Example usage

"Fine-mapping highlighted a missense variant in the lead gene with a high posterior probability."

Loss-of-Function Variant Nonsense Variant Synonymous Variant Variant Annotation
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • McLaren W, et al. (2016). The Ensembl Variant Effect Predictor. Genome Biol.
← Miocene epoch Missing Heritability →

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