Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation

Abstract excerpt

Missense mutations compromise protein fitness by altering stability and function, which can lead to various clinical disease states. The potassium ion channel KCNQ1 underlies the majority of congenital long QT syndrome (LQTS) cases, one of the most common genetic arrhythmia syndromes. During genetic testing for LQTS, variants of uncertain significance (VUS) confound diagnosis and clinical management. KCNQ1 protein...

Topics

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• Cardiac electrophysiology and arrhythmias
• Databases, Genetic
• Genetic Variation
• Ion channel regulation and function
• Mutation
• Mutation, Missense
• Potassium Channels, Inwardly Rectifying
• Proteins

Identifiers and source

Literature Corpus work

8980bd41-9af3-5929-85ad-c5cd7259cbcb

DOI

10.1101/2025.10.31.685955