CPA3 — 65 ClinVar variants
All ClinVar germline CPA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
3 Benign · 3 Likely benign · 59 Uncertain significance
Full CPA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPA3 p.Ala117Thr Uncertain significance Single submitter
- CPA3 p.Ala177Thr Uncertain significance Single submitter
- CPA3 p.Ala56Thr Uncertain significance Single submitter
- CPA3 p.Ala77Thr Uncertain significance Single submitter
- CPA3 p.Arg273Gln Uncertain significance Single submitter
- CPA3 p.Arg345His Uncertain significance Single submitter
- CPA3 p.Asn265Ser Uncertain significance Single submitter
- CPA3 p.Asp134Ala Uncertain significance Single submitter
- CPA3 p.Gln192Arg Uncertain significance Single submitter
- CPA3 p.Glu179Asp Uncertain significance Single submitter
- CPA3 p.Glu280Asp Uncertain significance Single submitter
- CPA3 p.Glu280Lys Uncertain significance Single submitter
- CPA3 p.Glu378Asp Uncertain significance Single submitter
- CPA3 p.Glu400Asp Uncertain significance Single submitter
- CPA3 p.Glu99Gln Uncertain significance Single submitter
- CPA3 p.Gly112Ser Uncertain significance Single submitter
- CPA3 p.Gly247Val Uncertain significance Single submitter
- CPA3 p.Ile246Val Uncertain significance Single submitter
- CPA3 p.Ile351Val Uncertain significance Single submitter
- CPA3 p.Ile412Val Uncertain significance Single submitter
- CPA3 p.Leu250Phe Uncertain significance Single submitter
- CPA3 p.Leu338Pro Uncertain significance Single submitter
- CPA3 p.Leu379Arg Uncertain significance Single submitter
- CPA3 p.Leu389Phe Uncertain significance Single submitter
- CPA3 p.Lys107Gln Uncertain significance Single submitter
- CPA3 p.Lys372Asn Uncertain significance Single submitter
- CPA3 p.Lys384Arg Uncertain significance Single submitter
- CPA3 p.Lys73Arg Uncertain significance Single submitter
- CPA3 p.Met139Ile Uncertain significance Single submitter
- CPA3 p.Met203Val Uncertain significance Single submitter
- CPA3 p.Phe104Ser Uncertain significance Single submitter
- CPA3 p.Phe289Val Uncertain significance Single submitter
- CPA3 p.Phe377Ser Uncertain significance Single submitter
- CPA3 p.Trp258Arg Uncertain significance Single submitter
- CPA3 p.Trp365Arg Uncertain significance Single submitter
- CPA3 p.Tyr53His Uncertain significance Single submitter
- CPA3 p.Val190Ile Uncertain significance Single submitter
- CPA3 p.Val19Ile Uncertain significance Single submitter
- CPA3 p.Val60Ile Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CPA3 p.Thr283Met Benign Multiple submitters
- CPA3 p.Ala15Thr Uncertain significance Single submitter
- CPA3 p.Arg20His Uncertain significance Single submitter
- CPA3 p.Arg231His Uncertain significance Single submitter
- CPA3 p.Arg237Cys Uncertain significance Single submitter
- CPA3 p.Arg345Cys Uncertain significance Single submitter
- CPA3 p.Arg69Gln Uncertain significance Single submitter
- CPA3 p.Asn120Ser Uncertain significance Single submitter
- CPA3 p.Asn219Ser Uncertain significance Single submitter
- CPA3 p.Asp134Tyr Uncertain significance Single submitter
- CPA3 p.Asp208Glu Uncertain significance Single submitter
- CPA3 p.Asp95His Uncertain significance Single submitter
- CPA3 p.Gly334Asp Uncertain significance Single submitter
- CPA3 p.His324Gln Uncertain significance Single submitter
- CPA3 p.His94Tyr Uncertain significance Single submitter
- CPA3 p.Ile4Asn Uncertain significance Single submitter
- CPA3 p.Leu413Phe Uncertain significance Single submitter
- CPA3 p.Leu92Val Uncertain significance Single submitter
- CPA3 p.Ser292Ile Uncertain significance Single submitter
- CPA3 p.Tyr314Cys Uncertain significance Single submitter
- CPA3 p.Val217Ala Uncertain significance Single submitter
All CPA3 variants
Benign 3
- p.Arg273Pro Multiple submitters
- p.Thr283Met Multiple submitters ⚠
- p.Thr204= Single submitter
Likely benign 3
- p.Arg399Lys Single submitter
- p.Ile358Thr Single submitter
- p.Val149= Single submitter
Uncertain significance 59
- p.Ala117Thr Single submitter ⚠
- p.Ala15Thr Single submitter ⚠
- p.Ala177Thr Single submitter ⚠
- p.Ala56Thr Single submitter ⚠
- p.Ala77Thr Single submitter ⚠
- p.Arg20His Single submitter ⚠
- p.Arg231His Single submitter ⚠
- p.Arg237Cys Single submitter ⚠
- p.Arg273Gln Single submitter ⚠
- p.Arg345Cys Single submitter ⚠
- p.Arg345His Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Asn120Ser Single submitter ⚠
- p.Asn219Ser Single submitter ⚠
- p.Asn265Ser Single submitter ⚠
- p.Asp134Ala Single submitter ⚠
- p.Asp134Tyr Single submitter ⚠
- p.Asp208Glu Single submitter ⚠
- p.Asp95His Single submitter ⚠
- p.Gln192Arg Single submitter ⚠
- p.Glu179Asp Single submitter ⚠
- p.Glu280Asp Single submitter ⚠
- p.Glu280Lys Single submitter ⚠
- p.Glu378Asp Single submitter ⚠
- p.Glu400Asp Single submitter ⚠
- p.Glu99Gln Single submitter ⚠
- p.Gly112Ser Single submitter ⚠
- p.Gly247Val Single submitter ⚠
- p.Gly334Asp Single submitter ⚠
- p.His324Gln Single submitter ⚠
- p.His94Tyr Single submitter ⚠
- p.Ile246Val Single submitter ⚠
- p.Ile351Val Single submitter ⚠
- p.Ile412Val Single submitter ⚠
- p.Ile4Asn Single submitter ⚠
- p.Leu250Phe Single submitter ⚠
- p.Leu338Pro Single submitter ⚠
- p.Leu379Arg Single submitter ⚠
- p.Leu389Phe Single submitter ⚠
- p.Leu413Phe Single submitter ⚠
- p.Leu92Val Single submitter ⚠
- p.Lys107Gln Single submitter ⚠
- p.Lys372Asn Single submitter ⚠
- p.Lys384Arg Single submitter ⚠
- p.Lys73Arg Single submitter ⚠
- p.Met139Ile Single submitter ⚠
- p.Met203Val Single submitter ⚠
- p.Phe104Ser Single submitter ⚠
- p.Phe289Val Single submitter ⚠
- p.Phe377Ser Single submitter ⚠
- p.Ser292Ile Single submitter ⚠
- p.Trp258Arg Single submitter ⚠
- p.Trp365Arg Single submitter ⚠
- p.Tyr314Cys Single submitter ⚠
- p.Tyr53His Single submitter ⚠
- p.Val190Ile Single submitter ⚠
- p.Val19Ile Single submitter ⚠
- p.Val217Ala Single submitter ⚠
- p.Val60Ile Single submitter ⚠