Article

Toward Advanced Quantitative Prediction of Missense Variant Effects

2026-08-24

Abstract excerpt

Predicting how missense variants alter protein function is central to resolving the genotype-to-phenotype equation, a task now addressed by numerous computational predictors. The most accurate are increasingly opaque, however, limiting both their mechanistic value and their adoption in the clinic. Here we present QAFIsplit, a redesign of the Quantitative Assessment of Functional Impact framework that models varian...

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Literature Corpus work: 31c27de2-b01c-5389-a13b-19293bcc5e4c
DOI: 10.20944/preprints202608.1590.v1

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