In Silico Prioritization of Variants of Uncertain Significance in ABCA4 Reveals Conserved Functional Motifs
This study employs an integrative computational framework to identify four critical conserved motifs within the ABCA4 extracytoplasmic domain 2, demonstrating that variants of uncertain significance disrupting these motifs are thermodynamically destabilizing and providing a prioritized list for reclassification to improve genetic diagnosis of Stargardt disease.