Skip to content

Frameshift Variant

Definition
AI-generated

A frameshift variant is an insertion or deletion in coding sequence whose length is not a multiple of three, thereby shifting the reading frame downstream of the event.

Topics
Core genetics
Related
Indel Insertion Deletion

Why it matters in GWAS

Frameshift variants are frequently damaging and are commonly grouped among high-impact or loss-of-function variant classes in sequencing analyses.

Example usage

"A replication step evaluates whether Frameshift Variant assumptions hold across cohorts."

Indel Insertion Deletion Loss-of-Function Variant
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.
← Founder Effect Frequency distribution →

Last updated (UTC · Git history)