CELA2A — 48 ClinVar variants
All ClinVar germline CELA2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 5 Likely benign · 38 Uncertain significance
Full CELA2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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CELA2A p.Leu85Met
Likely pathogenic
Multiple submitters
abdominal obesity-metabolic syndrome 4
Predictors lean, ClinVar uncertain 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CELA2A p.Ala190Thr Uncertain significance Single submitter
- CELA2A p.Arg162Ser Uncertain significance Single submitter
- CELA2A p.Arg177Gln Uncertain significance Single submitter
- CELA2A p.Arg240Cys Uncertain significance Single submitter
- CELA2A p.Asp135Asn Uncertain significance Single submitter
- CELA2A p.Gly13Ala Uncertain significance Single submitter
- CELA2A p.Gly167Glu Uncertain significance Single submitter
- CELA2A p.Gly233Ser Uncertain significance Single submitter
- CELA2A p.Gly32Ser Uncertain significance Single submitter
-
CELA2A p.Ile148Val
Uncertain significance
Single submitter
abdominal obesity-metabolic syndrome 4
- CELA2A p.Ile201Thr Uncertain significance Single submitter
- CELA2A p.Ile234Met Uncertain significance Single submitter
- CELA2A p.Trp67Leu Uncertain significance Single submitter
- CELA2A p.Val83Met Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- CELA2A p.Ala145Val Uncertain significance Single submitter
- CELA2A p.Ala184Gly Uncertain significance Single submitter
- CELA2A p.Ala35Val Uncertain significance Single submitter
- CELA2A p.Ala93Val Uncertain significance Single submitter
- CELA2A p.Arg228Gln Likely benign Single submitter
- CELA2A p.Arg228Trp Uncertain significance Single submitter
- CELA2A p.Arg240His Uncertain significance Single submitter
- CELA2A p.Arg79Gly Uncertain significance Single submitter
- CELA2A p.Arg82His Uncertain significance Single submitter
- CELA2A p.Asn166Tyr Uncertain significance Single submitter
- CELA2A p.Asn213Ser Uncertain significance Single submitter
- CELA2A p.Asp171Glu Uncertain significance Single submitter
- CELA2A p.Glu33Lys Uncertain significance Single submitter
- CELA2A p.Ile266Thr Uncertain significance Single submitter
-
CELA2A p.Leu127Met
Uncertain significance
Single submitter
abdominal obesity-metabolic syndrome 4
- CELA2A p.Leu241Pro Uncertain significance Single submitter
- CELA2A p.Lys53Gln Likely benign Single submitter
- CELA2A p.Pro24Ser Uncertain significance Single submitter
- CELA2A p.Ser211Thr Uncertain significance Single submitter
- CELA2A p.Ser264Leu Uncertain significance Single submitter
- CELA2A p.Val107Met Uncertain significance Single submitter
- CELA2A p.Val131Ile Uncertain significance Single submitter
- CELA2A p.Val208Met Uncertain significance Single submitter
- CELA2A p.Val235Ile Uncertain significance Single submitter
- CELA2A p.Val251Ile Uncertain significance Single submitter
All CELA2A variants
Pathogenic 3
- p.Thr70Met Multiple submitters abdominal obesity-metabolic syndrome 4
- c.639+1G>C No assertion criteria coronary artery disorder
- p.Asp121Asn No assertion criteria coronary artery disorder
Likely pathogenic 2
- p.Leu85Met Multiple submitters abdominal obesity-metabolic syndrome 4 ⚠
- p.Trp191Ter Single submitter abdominal obesity-metabolic syndrome 4
Likely benign 5
- p.Arg228Gln Single submitter ⚠
- p.Asn257Ser Single submitter
- p.Gln230Glu Single submitter
- p.Lys53Gln Single submitter ⚠
- p.Val102Phe Single submitter
Uncertain significance 38
- c.356+5G>C Single submitter abdominal obesity-metabolic syndrome 4
- p.Ala145Val Single submitter ⚠
- p.Ala184Gly Single submitter ⚠
- p.Ala190Thr Single submitter ⚠
- p.Ala35Val Single submitter ⚠
- p.Ala93Val Single submitter ⚠
- p.Arg162Ser Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg228Trp Single submitter ⚠
- p.Arg240Cys Single submitter ⚠
- p.Arg240His Single submitter ⚠
- p.Arg79Gly Single submitter ⚠
- p.Arg82His Single submitter ⚠
- p.Asn166Tyr Single submitter ⚠
- p.Asn213Ser Single submitter ⚠
- p.Asp135Asn Single submitter ⚠
- p.Asp171Glu Single submitter ⚠
- p.Glu33Lys Single submitter ⚠
- p.Gly13Ala Single submitter ⚠
- p.Gly167Glu Single submitter ⚠
- p.Gly233Ser Single submitter ⚠
- p.Gly32Ser Single submitter ⚠
- p.Ile148Val Single submitter abdominal obesity-metabolic syndrome 4 ⚠
- p.Ile201Thr Single submitter ⚠
- p.Ile234Met Single submitter ⚠
- p.Ile266Thr Single submitter ⚠
- p.Leu127Met Single submitter abdominal obesity-metabolic syndrome 4 ⚠
- p.Leu241Pro Single submitter ⚠
- p.Pro24Ser Single submitter ⚠
- p.Ser211Thr Single submitter ⚠
- p.Ser264Leu Single submitter ⚠
- p.Trp67Leu Single submitter ⚠
- p.Val107Met Single submitter ⚠
- p.Val131Ile Single submitter ⚠
- p.Val208Met Single submitter ⚠
- p.Val235Ile Single submitter ⚠
- p.Val251Ile Single submitter ⚠
- p.Val83Met Single submitter ⚠