Article

Structural distance at the tRNA synthetase active site interface predicts pathogenicity but is captured by AlphaMissense and EVE except among score-ambiguous variants

2026-05-26

Abstract excerpt

Variants of uncertain significance have accumulated as genomic sequencing has become more widespread, which complicates rare disease diagnosis and requires substantial resources for re-evaluation. Aminoacyl-tRNA synthetases (ARSs) are a protein family with extensive variant data and well-characterized disease associations, making them an ideal system for investigating the relationship between variant location and...

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Literature Corpus work: 14bf43f3-1994-5390-99cb-19943ec030d1
DOI: 10.64898/2026.05.22.727252

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