CELA3A — 63 ClinVar variants
All ClinVar germline CELA3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
8 Likely benign · 55 Uncertain significance
Full CELA3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CELA3A p.Ala147Gly Uncertain significance Single submitter
- CELA3A p.Ala147Thr Uncertain significance Single submitter
- CELA3A p.Ala64Thr Uncertain significance Single submitter
- CELA3A p.Arg115His Uncertain significance Single submitter
- CELA3A p.Arg179Gln Uncertain significance Single submitter
- CELA3A p.Arg179Trp Uncertain significance Single submitter
- CELA3A p.Arg4Gln Uncertain significance Single submitter
- CELA3A p.Arg4Trp Uncertain significance Single submitter
- CELA3A p.Asp173Ala Uncertain significance Single submitter
- CELA3A p.Asp173Glu Uncertain significance Single submitter
- CELA3A p.Asp78Ala Uncertain significance Single submitter
- CELA3A p.Asp78Tyr Uncertain significance Single submitter
- CELA3A p.Gln177Glu Uncertain significance Single submitter
- CELA3A p.Glu105Asp Uncertain significance Single submitter
- CELA3A p.Glu226Lys Uncertain significance Single submitter
- CELA3A p.Glu97Asp Uncertain significance Single submitter
- CELA3A p.Gly148Val Uncertain significance Single submitter
- CELA3A p.Gly19Ser Uncertain significance Single submitter
- CELA3A p.Gly212Ser Uncertain significance Single submitter
- CELA3A p.Gly229Asp Uncertain significance Single submitter
- CELA3A p.Gly229Val Uncertain significance Single submitter
- CELA3A p.Ile102Val Uncertain significance Single submitter
- CELA3A p.Ile150Asn Uncertain significance Single submitter
- CELA3A p.Ile247Ser Uncertain significance Single submitter
- CELA3A p.Ile247Thr Uncertain significance Single submitter
- CELA3A p.Ile260Leu Uncertain significance Single submitter
- CELA3A p.Ile260Met Uncertain significance Single submitter
- CELA3A p.Ile260Val Uncertain significance Single submitter
- CELA3A p.Leu46Met Uncertain significance Single submitter
- CELA3A p.Leu85Val Uncertain significance Single submitter
- CELA3A p.Phe246Ser Uncertain significance Single submitter
- CELA3A p.Phe259Leu Uncertain significance Single submitter
- CELA3A p.Pro156Ser Uncertain significance Single submitter
- CELA3A p.Pro156Thr Uncertain significance Single submitter
- CELA3A p.Pro37Ser Uncertain significance Single submitter
- CELA3A p.Pro41Arg Uncertain significance Single submitter
- CELA3A p.Pro41Ser Uncertain significance Single submitter
- CELA3A p.Ser211Phe Uncertain significance Single submitter
- CELA3A p.Ser45Phe Uncertain significance Single submitter
- CELA3A p.Tyr158Cys Uncertain significance Single submitter
- CELA3A p.Val139Ile Uncertain significance Single submitter
- CELA3A p.Val198Leu Uncertain significance Single submitter
- CELA3A p.Val68Gly Uncertain significance Single submitter
- CELA3A p.Val99Leu Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CELA3A p.Ala125Thr Uncertain significance Single submitter
- CELA3A p.Ala64Val Uncertain significance Single submitter
- CELA3A p.Arg28Cys Uncertain significance Single submitter
- CELA3A p.Pro172Leu Uncertain significance Single submitter
- CELA3A p.Thr155Ile Uncertain significance Single submitter
- CELA3A p.Thr251Met Uncertain significance Single submitter
- CELA3A p.Thr57Met Uncertain significance Single submitter
- CELA3A p.Val183Met Uncertain significance Single submitter
All CELA3A variants
Likely benign 8
- p.Arg77Ser Single submitter
- p.Glu105Gly Single submitter
- p.His233= Single submitter
- p.Ile247Leu Single submitter
- p.Leu107= Single submitter
- p.Thr197Ser Single submitter
- p.Trp248Arg Single submitter
- p.Tyr208Asp Single submitter
Uncertain significance 55
- p.Ala125Thr Single submitter ⚠
- p.Ala147Gly Single submitter ⚠
- p.Ala147Thr Single submitter ⚠
- p.Ala64Thr Single submitter ⚠
- p.Ala64Val Single submitter ⚠
- p.Arg115His Single submitter ⚠
- p.Arg179Gln Single submitter ⚠
- p.Arg179Trp Single submitter ⚠
- p.Arg210Cys Single submitter
- p.Arg28Cys Single submitter ⚠
- p.Arg4Gln Single submitter ⚠
- p.Arg4Trp Single submitter ⚠
- p.Asp173Ala Single submitter ⚠
- p.Asp173Glu Single submitter ⚠
- p.Asp78Ala Single submitter ⚠
- p.Asp78Tyr Single submitter ⚠
- p.Gln140His Single submitter
- p.Gln177Glu Single submitter ⚠
- p.Glu105Asp Single submitter ⚠
- p.Glu226Lys Single submitter ⚠
- p.Glu97Asp Single submitter ⚠
- p.Gly148Val Single submitter ⚠
- p.Gly19Ser Single submitter ⚠
- p.Gly212Ser Single submitter ⚠
- p.Gly229Asp Single submitter ⚠
- p.Gly229Val Single submitter ⚠
- p.Ile102Val Single submitter ⚠
- p.Ile150Asn Single submitter ⚠
- p.Ile247Ser Single submitter ⚠
- p.Ile247Thr Single submitter ⚠
- p.Ile260Leu Single submitter ⚠
- p.Ile260Met Single submitter ⚠
- p.Ile260Val Single submitter ⚠
- p.Leu46Met Single submitter ⚠
- p.Leu85Val Single submitter ⚠
- p.Phe246Ser Single submitter ⚠
- p.Phe259Leu Single submitter ⚠
- p.Pro156Ser Single submitter ⚠
- p.Pro156Thr Single submitter ⚠
- p.Pro172Leu Single submitter ⚠
- p.Pro37Ser Single submitter ⚠
- p.Pro41Arg Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Ser211Phe Single submitter ⚠
- p.Ser45Phe Single submitter ⚠
- p.Thr155Ile Single submitter ⚠
- p.Thr251Met Single submitter ⚠
- p.Thr57Met Single submitter ⚠
- p.Tyr158Cys Single submitter ⚠
- p.Tyr38Cys Single submitter
- p.Val139Ile Single submitter ⚠
- p.Val183Met Single submitter ⚠
- p.Val198Leu Single submitter ⚠
- p.Val68Gly Single submitter ⚠
- p.Val99Leu Single submitter ⚠