INDELVAR: Structure-based interpretation of in-frame indel pathogenicity
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Precomputed INDELVAR scores for 209,211,495 possible 1–10-amino-acid in-frame deletions and insertions across 19,053 MANE Select protein-coding genes. INDELVAR estimates in-frame indel pathogenicity from AlphaFold-derived three-dimensional protein structure, integrating sequence conservation, gene-level constraint, sequence context, and protein annotation, and returns a 0–1 pathogenicity score, calibrated separately for insertions and deletions, that is calibrated against ACMG/AMP PP3/BP4 computational evidence under the ClinGen SVI framework. Repository: https://github.com/eunhui-ji/INDELVAR
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Zenodo创建时间:
2026-07-10



