CPA2 — 60 ClinVar variants
All ClinVar germline CPA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
3 Benign · 57 Uncertain significance
Full CPA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPA2 p.Ala122Asp Uncertain significance Single submitter
- CPA2 p.Ala176Val Uncertain significance Single submitter
- CPA2 p.Ala336Pro Uncertain significance Single submitter
- CPA2 p.Arg181Gln Uncertain significance Single submitter
- CPA2 p.Arg234His Uncertain significance Single submitter
- CPA2 p.Arg240Pro Uncertain significance Single submitter
- CPA2 p.Asn109Ser Uncertain significance Single submitter
- CPA2 p.Asn135Lys Uncertain significance Single submitter
- CPA2 p.Asn148Ile Uncertain significance Single submitter
- CPA2 p.Asn222Lys Uncertain significance Single submitter
- CPA2 p.Gln338Arg Uncertain significance Single submitter
- CPA2 p.Gln84Arg Uncertain significance Single submitter
- CPA2 p.Gly116Ser Uncertain significance Single submitter
- CPA2 p.Gly250Ser Uncertain significance Single submitter
- CPA2 p.His15Arg Uncertain significance Single submitter
- CPA2 p.Ile172Thr Uncertain significance Single submitter
- CPA2 p.Ile178Thr Uncertain significance Single submitter
- CPA2 p.Ile289Val Uncertain significance Single submitter
- CPA2 p.Ile293Val Uncertain significance Single submitter
- CPA2 p.Ile410Val Uncertain significance Single submitter
- CPA2 p.Leu161Pro Uncertain significance Single submitter
- CPA2 p.Lys319Asn Uncertain significance Single submitter
- CPA2 p.Phe377Leu Uncertain significance Single submitter
- CPA2 p.Thr239Ile Uncertain significance Single submitter
- CPA2 p.Thr384Lys Uncertain significance Single submitter
- CPA2 p.Val72Ile Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- CPA2 p.Arg114Gln Uncertain significance Single submitter
- CPA2 p.Arg415Gln Uncertain significance Single submitter
- CPA2 p.Asp211Tyr Uncertain significance Single submitter
- CPA2 p.Glu102Val Uncertain significance Single submitter
- CPA2 p.Glu128Val Uncertain significance Single submitter
- CPA2 p.Glu29Ala Uncertain significance Single submitter
- CPA2 p.Glu412Asp Uncertain significance Single submitter
- CPA2 p.Glu45Lys Uncertain significance Single submitter
- CPA2 p.Gly142Cys Uncertain significance Single submitter
- CPA2 p.Gly24Arg Uncertain significance Single submitter
- CPA2 p.Gly345Ser Uncertain significance Single submitter
- CPA2 p.His344Pro Uncertain significance Single submitter
- CPA2 p.Leu12His Uncertain significance Single submitter
- CPA2 p.Leu405Pro Uncertain significance Single submitter
- CPA2 p.Lys146Gln Uncertain significance Single submitter
- CPA2 p.Lys242Asn Uncertain significance Single submitter
- CPA2 p.Lys349Asn Uncertain significance Single submitter
- CPA2 p.Met411Ile Uncertain significance Single submitter
- CPA2 p.Phe163Leu Uncertain significance Single submitter
- CPA2 p.Pro219Leu Uncertain significance Single submitter
- CPA2 p.Pro264Arg Uncertain significance Single submitter
- CPA2 p.Pro61Arg Uncertain significance Single submitter
- CPA2 p.Ser145Asn Uncertain significance Single submitter
- CPA2 p.Thr188Ala Uncertain significance Single submitter
- CPA2 p.Thr207Ala Uncertain significance Single submitter
- CPA2 p.Tyr200His Uncertain significance Single submitter
- CPA2 p.Tyr419Cys Uncertain significance Single submitter
- CPA2 p.Val137Met Uncertain significance Single submitter
- CPA2 p.Val220Ile Uncertain significance Single submitter
- CPA2 p.Val290Met Uncertain significance Single submitter
- CPA2 p.Val95Met Uncertain significance Single submitter
All CPA2 variants
Benign 3
- p.Ile172Val Multiple submitters
- p.Val67Ile Multiple submitters
- p.His66= Single submitter
Uncertain significance 57
- p.Ala122Asp Single submitter ⚠
- p.Ala176Val Single submitter ⚠
- p.Ala336Pro Single submitter ⚠
- p.Arg114Gln Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg234His Single submitter ⚠
- p.Arg240Pro Single submitter ⚠
- p.Arg415Gln Single submitter ⚠
- p.Asn109Ser Single submitter ⚠
- p.Asn135Lys Single submitter ⚠
- p.Asn148Ile Single submitter ⚠
- p.Asn222Lys Single submitter ⚠
- p.Asp211Tyr Single submitter ⚠
- p.Gln338Arg Single submitter ⚠
- p.Gln84Arg Single submitter ⚠
- p.Glu102Val Single submitter ⚠
- p.Glu128Val Single submitter ⚠
- p.Glu29Ala Single submitter ⚠
- p.Glu412Asp Single submitter ⚠
- p.Glu45Lys Single submitter ⚠
- p.Gly116Ser Single submitter ⚠
- p.Gly142Cys Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly250Ser Single submitter ⚠
- p.Gly345Ser Single submitter ⚠
- p.His15Arg Single submitter ⚠
- p.His344Pro Single submitter ⚠
- p.Ile172Thr Single submitter ⚠
- p.Ile178Thr Single submitter ⚠
- p.Ile289Val Single submitter ⚠
- p.Ile293Val Single submitter ⚠
- p.Ile410Val Single submitter ⚠
- p.Leu12His Single submitter ⚠
- p.Leu161Pro Single submitter ⚠
- p.Leu405Pro Single submitter ⚠
- p.Lys146Gln Single submitter ⚠
- p.Lys242Asn Single submitter ⚠
- p.Lys319Asn Single submitter ⚠
- p.Lys349Asn Single submitter ⚠
- p.Met411Ile Single submitter ⚠
- p.Phe163Leu Single submitter ⚠
- p.Phe377Leu Single submitter ⚠
- p.Pro219Leu Single submitter ⚠
- p.Pro264Arg Single submitter ⚠
- p.Pro61Arg Single submitter ⚠
- p.Ser145Asn Single submitter ⚠
- p.Thr188Ala Single submitter ⚠
- p.Thr207Ala Single submitter ⚠
- p.Thr239Ile Single submitter ⚠
- p.Thr384Lys Single submitter ⚠
- p.Tyr200His Single submitter ⚠
- p.Tyr419Cys Single submitter ⚠
- p.Val137Met Single submitter ⚠
- p.Val220Ile Single submitter ⚠
- p.Val290Met Single submitter ⚠
- p.Val72Ile Single submitter ⚠
- p.Val95Met Single submitter ⚠