Article

UshEffect-3D: Structure-informed Classification of USH2A Missense Variants for Inherited Retinal Disease

2026-04-27

Abstract excerpt

Variants of uncertain significance (VUS) in USH2A represent a critical interpretive challenge in inherited retinal disease, with over 70% of ClinVar submissions for this gene currently unresolved. We developed UshEffect-3D, a gene-specific, structure-informed machine learning framework for USH2A missense variant classification. A dataset of 545 curated variants was assembled from ClinVar and LOVD, and AlphaFold2-p...

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Literature Corpus work: 4d73de19-b4e8-5268-aa63-217446f6006e
DOI: 10.64898/2026.04.23.720479

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