data/tables/acmg_alphamissense.json

{
 "id": "acmg_alphamissense",
 "category": "ACMG & In Silico Predictors",
 "title": "AlphaMissense Deep Learning Structural Predictions",
 "description": "AlphaFold-derived structural misfolding scores for candidate missense mutations.",
 "columns": [
  "Gene",
  "Variant (GRCh38)",
  "HGVSc",
  "Raw In Silico Score",
  "Percentile Rank",
  "Threshold Interpretation",
  "ACMG Evidence Code"
 ],
 "rows": [
  [
   "TRIP13",
   "chr5:895,302",
   "c.1060G>A",
   "0.882 / 28.4 Phred",
   "98.5th Percentile",
   "Deleterious / Damaging",
   "PP3 (Strong Computational Support)"
  ],
  [
   "BUB1B",
   "chr15:40,205,811",
   "c.1972C>T",
   "38.0 Phred",
   "99.9th Percentile",
   "Nonsense Truncation",
   "PVS1 (Very Strong Loss-of-Function)"
  ],
  [
   "CEP57",
   "chr11:96,158,214",
   "c.403C>T",
   "36.0 Phred",
   "99.8th Percentile",
   "Nonsense Stop Gain",
   "PVS1 (Loss of Microtubule Domain)"
  ],
  [
   "MAD1L1",
   "chr7:1,842,504",
   "c.1852C>T",
   "0.794 / 26.2 Phred",
   "96.4th Percentile",
   "Damaging Missense",
   "PP3 (Computational Evidence)"
  ],
  [
   "CEP192",
   "chr18:12,874,103",
   "c.1504G>A",
   "0.741 / 24.1 Phred",
   "94.2th Percentile",
   "Likely Damaging",
   "PP3 (Supporting Evidence)"
  ],
  [
   "TP53",
   "chr17:7,675,088",
   "c.524G>A",
   "0.962 / 32.0 Phred",
   "99.7th Percentile",
   "Structural Oncogenic Driver",
   "PS1 / PS3 / PP3 (Well-Established Pathogenic)"
  ],
  [
   "WT1",
   "chr11:32,417,912",
   "c.1180C>T",
   "0.935 / 29.6 Phred",
   "99.2th Percentile",
   "Zinc Finger Inactivation",
   "PS1 / PM1 / PP3 (Pathogenic Hotspot)"
  ]
 ],
 "tags": [
  "ACMG",
  "InSilico",
  "Pathogenicity"
 ],
 "row_count": 7
}