{ "id": "acmg_domain_tolerance_09", "category": "ACMG & In Silico Predictors", "title": "Protein Functional Domain Tolerance & Constraint Matrix 4", "description": "Missense Tolerance Ratio (MTR), gnomAD pLI, and LOEUF scores across mitotic protein domain 4.", "columns": [ "Protein Domain", "Gene", "MTR Score", "pLI Score", "LOEUF Decile", "Observed / Expected (o/e)", "Constraint Classification" ], "rows": [ [ "Kinase Domain Module 9", "BUB1B", "0.412", "0.98 (High Constraint)", "Decile 1", "0.14 (High Depletion)", "Extremely Intolerant to Missense" ], [ "Centrosome Anchor Loop 9", "CEP57", "0.524", "0.92", "Decile 2", "0.22", "Constrained Structural Core" ], [ "AAA+ ATPase Cavity 9", "TRIP13", "0.380", "0.99", "Decile 1", "0.08", "Critical Catalytic Core (Zero gnomAD LoF)" ], [ "Corona Coiled-Coil 9", "MAD1L1", "0.610", "0.85", "Decile 3", "0.35", "Moderately Constrained Dimerization" ], [ "Kinesin Motor Core 9", "CENPE", "0.450", "0.95", "Decile 1", "0.18", "Intolerant to Translocation Disruption" ] ], "tags": [ "ACMG", "DomainTolerance", "Constraint" ], "row_count": 5 }