Article

Variant characterization in the intrinsically disordered human proteome

2025-06-30

Abstract excerpt

Variant effect prediction remains a key challenge to resolve in precision medicine. Sophisticated computational models that exploit sequence conservation and structure are increasingly successful in the characterization of missense variants in folded protein regions. However, 37% of all annotated missense variants reside in 25% of the proteome that is intrinsically disordered, lacking positional sequence conservat...

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Literature Corpus work: 86b2aef9-3e0d-56d1-bb04-954fec2c0d82
DOI: 10.1101/2025.06.27.661911

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