Article

AlphaFold-derived local structural confidence in BRCA1 missense variant interpretation: a ClinVar-based computational analysis

2026-07-22

Abstract excerpt

<title>Abstract</title> <p> Background Breast Cancer 1 ( <italic>BRCA1</italic> ) gene variations are known to be associated with breast and ovarian cancers. At the same time, interpreting <italic>BRCA1</italic> missense variants remains challenging, particularly for variants of uncertain significance (VUS), because sequence-based predictors do not fully capture local structural context. AlphaFold-derived p...

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Literature Corpus work: 8e7edfc3-125a-5967-8667-915488257266
DOI: 10.21203/rs.3.rs-10346088/v1

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