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Predicted loss-of-function (pLoF)

Definition
AI-generated

Classifier-predicted protein-truncating or strongly disruptive consequence (often integrating canonical splice, stop, frameshift) used in rare-variant burden and constraint metrics.

Topics
Post-GWAS
Related
Loss Of Function Variant Protein Truncating Variant Variant Annotation

Why it matters in GWAS

Bioinformatics methods determine how variants, expression, and epigenetic state are measured and summarized—shaping GWAS covariates, multi-omic integration, and functional follow-up.

Example usage

"The methods explicitly include Predicted loss-of-function (pLoF) to support interpretation of the main findings."

Loss Of Function Variant Protein Truncating Variant Variant Annotation Gnomad
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

  • Lesk AM. (2019). Introduction to Bioinformatics. Oxford University Press.
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