Article

A New Era in Missense Variant Analysis: Statistical Insights and the Introduction of VAMPP-Score for Pathogenicity Assessment

2024-07-13

Abstract excerpt

The clinical interpretation of missense variants is critically important in diagnostics due to their potential to cause mild-to-severe effects on phenotype by altering protein structure. Evaluating these variants is essential because they can significantly impact disease outcomes and patient management. Many computational predictors, known as in silico pathogenicity predictors (ISPPs), have been developed to suppo...

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Literature Corpus work: 4564d140-f4dd-5652-b8ba-c3a1635e643a
DOI: 10.1101/2024.07.11.602867

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