{"found": true, "allele_id": 22171, "gene": "CFTR", "name": "NM_000492.4(CFTR):c.1373G>T (p.Gly458Val)", "coordinates": {"chrom": "7", "pos": 117548804, "ref": "G", "alt": "T"}, "report": {"variant": "NM_000492.4(CFTR):c.1373G>T (p.Gly458Val)", "gene": "CFTR", "verdict": "evidence summary (not a clinical classification)", "calibrated_prob_pathogenic": 0.999, "citations": ["AM:7:117548804:G>T", "CLINVAR:allele22171", "GENEPRIOR:CFTR:frozen2024"], "evidence": ["[AlphaMissense] score=0.961 class=likely_pathogenic <AM:7:117548804:G>T>", "[ClinVar (frozen 2024-01)] status then: Uncertain significance <CLINVAR:allele22171>", "[Gene prior (frozen train)] gene=CFTR <GENEPRIOR:CFTR:frozen2024>"]}, "rendered": "# NM_000492.4(CFTR):c.1373G>T (p.Gly458Val) (CFTR)\n**Verdict:** evidence summary (not a clinical classification)\n**Calibrated P(pathogenic):** 0.999\n\n## Evidence (every claim cited)\n- [AlphaMissense] score=0.961 class=likely_pathogenic <AM:7:117548804:G>T>\n- [ClinVar (frozen 2024-01)] status then: Uncertain significance <CLINVAR:allele22171>\n- [Gene prior (frozen train)] gene=CFTR <GENEPRIOR:CFTR:frozen2024>", "data_version": "Data version: evaluation universe v1 \u00b7 Model: v3 gradient boosting (GBM+R) \u00b7 ClinVar monthly release, January 2024 freeze \u2014 evaluation universe v1, 27,748 variants"}