EAPP — 47 ClinVar variants
All ClinVar germline EAPP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Benign · 2 Likely benign · 44 Uncertain significance
Full EAPP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EAPP p.Ala183Val Uncertain significance Single submitter
- EAPP p.Ala267Val Uncertain significance Single submitter
- EAPP p.Ala95Ser Uncertain significance Single submitter
- EAPP p.Arg229Ser Uncertain significance Single submitter
- EAPP p.Arg236Lys Uncertain significance Single submitter
- EAPP p.Arg236Ser Uncertain significance Single submitter
- EAPP p.Asn238Thr Uncertain significance Single submitter
- EAPP p.Asp115Ala Uncertain significance Single submitter
- EAPP p.Asp31Gly Uncertain significance Single submitter
- EAPP p.Gln170Arg Uncertain significance Single submitter
- EAPP p.Glu112Asp Uncertain significance Single submitter
- EAPP p.Glu240Gly Uncertain significance Single submitter
- EAPP p.Glu244Lys Uncertain significance Single submitter
- EAPP p.Glu47Gly Uncertain significance Single submitter
- EAPP p.Gly36Val Uncertain significance Single submitter
- EAPP p.Leu190Val Uncertain significance Single submitter
- EAPP p.Met205Thr Uncertain significance Single submitter
- EAPP p.Met235Leu Uncertain significance Single submitter
- EAPP p.Met235Val Uncertain significance Single submitter
- EAPP p.Met258Thr Uncertain significance Single submitter
- EAPP p.Phe206Leu Uncertain significance Single submitter
- EAPP p.Pro10Ser Uncertain significance Single submitter
- EAPP p.Pro171Ser Uncertain significance Single submitter
- EAPP p.Pro173Leu Uncertain significance Single submitter
- EAPP p.Ser17Arg Uncertain significance Single submitter
- EAPP p.Thr264Pro Uncertain significance Single submitter
- EAPP p.Thr85Ala Uncertain significance Single submitter
- EAPP p.Thr85Ser Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- EAPP p.Ala282Thr Uncertain significance Single submitter
- EAPP p.Arg156Ser Uncertain significance Single submitter
- EAPP p.Asn279Ser Uncertain significance Single submitter
- EAPP p.Glu112Lys Uncertain significance Single submitter
- EAPP p.Glu19Gly Uncertain significance Single submitter
- EAPP p.Gly160Asp Uncertain significance Single submitter
- EAPP p.Leu44Phe Uncertain significance Single submitter
- EAPP p.Lys126Glu Uncertain significance Single submitter
- EAPP p.Lys221Glu Uncertain significance Single submitter
- EAPP p.Lys227Glu Uncertain significance Single submitter
- EAPP p.Met205Ile Uncertain significance Single submitter
- EAPP p.Met73Thr Uncertain significance Single submitter
- EAPP p.Ser211Cys Uncertain significance Single submitter
- EAPP p.Ser211Pro Uncertain significance Single submitter
- EAPP p.Ser263Cys Uncertain significance Single submitter
- EAPP p.Thr133Ala Uncertain significance Single submitter
- EAPP p.Val217Ile Likely benign Single submitter
All EAPP variants
Benign 1
- p.Arg239Gln Multiple submitters
Likely benign 2
- p.Lys130Arg Single submitter
- p.Val217Ile Single submitter ⚠
Uncertain significance 44
- p.Ala183Val Single submitter ⚠
- p.Ala267Val Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Ala95Ser Single submitter ⚠
- p.Arg156Ser Single submitter ⚠
- p.Arg229Ser Single submitter ⚠
- p.Arg236Lys Single submitter ⚠
- p.Arg236Ser Single submitter ⚠
- p.Asn238Thr Single submitter ⚠
- p.Asn279Ser Single submitter ⚠
- p.Asp115Ala Single submitter ⚠
- p.Asp31Gly Single submitter ⚠
- p.Gln170Arg Single submitter ⚠
- p.Glu112Asp Single submitter ⚠
- p.Glu112Lys Single submitter ⚠
- p.Glu19Gly Single submitter ⚠
- p.Glu240Gly Single submitter ⚠
- p.Glu244Lys Single submitter ⚠
- p.Glu47Gly Single submitter ⚠
- p.Gly160Asp Single submitter ⚠
- p.Gly36Val Single submitter ⚠
- p.Leu190Val Single submitter ⚠
- p.Leu44Phe Single submitter ⚠
- p.Lys126Glu Single submitter ⚠
- p.Lys221Glu Single submitter ⚠
- p.Lys227Glu Single submitter ⚠
- p.Met205Ile Single submitter ⚠
- p.Met205Thr Single submitter ⚠
- p.Met235Leu Single submitter ⚠
- p.Met235Val Single submitter ⚠
- p.Met258Thr Single submitter ⚠
- p.Met73Thr Single submitter ⚠
- p.Phe206Leu Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro171Ser Single submitter ⚠
- p.Pro173Leu Single submitter ⚠
- p.Ser17Arg Single submitter ⚠
- p.Ser211Cys Single submitter ⚠
- p.Ser211Pro Single submitter ⚠
- p.Ser263Cys Single submitter ⚠
- p.Thr133Ala Single submitter ⚠
- p.Thr264Pro Single submitter ⚠
- p.Thr85Ala Single submitter ⚠
- p.Thr85Ser Single submitter ⚠