CPA4 — 63 ClinVar variants
All ClinVar germline CPA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
3 Likely benign · 60 Uncertain significance
Full CPA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPA4 p.Ala261Ser Uncertain significance Single submitter
- CPA4 p.Ala282Thr Uncertain significance Single submitter
- CPA4 p.Ala378Ser Uncertain significance Single submitter
- CPA4 p.Arg113Gln Uncertain significance Single submitter
- CPA4 p.Arg244Gln Uncertain significance Single submitter
- CPA4 p.Arg32Gly Uncertain significance Single submitter
- CPA4 p.Arg62Gln Uncertain significance Single submitter
- CPA4 p.Arg62Trp Uncertain significance Single submitter
- CPA4 p.Asn116Ser Uncertain significance Single submitter
- CPA4 p.Asn283Ser Uncertain significance Single submitter
- CPA4 p.Asn419Lys Uncertain significance Single submitter
- CPA4 p.Asp134Gly Uncertain significance Single submitter
- CPA4 p.Asp372Glu Uncertain significance Single submitter
- CPA4 p.Asp418Asn Uncertain significance Single submitter
- CPA4 p.Cys356Phe Uncertain significance Single submitter
- CPA4 p.Glu184Gly Uncertain significance Single submitter
- CPA4 p.Glu213Asp Uncertain significance Single submitter
- CPA4 p.Glu414Lys Uncertain significance Single submitter
- CPA4 p.Gly227Val Uncertain significance Single submitter
- CPA4 p.Gly319Glu Uncertain significance Single submitter
- CPA4 p.Gly364Arg Uncertain significance Single submitter
- CPA4 p.Gly387Arg Uncertain significance Single submitter
- CPA4 p.Gly84Ser Uncertain significance Single submitter
- CPA4 p.His131Tyr Uncertain significance Single submitter
- CPA4 p.His415Arg Uncertain significance Single submitter
- CPA4 p.Ile7Thr Uncertain significance Single submitter
- CPA4 p.Leu10Ile Uncertain significance Single submitter
- CPA4 p.Leu161Pro Uncertain significance Single submitter
- CPA4 p.Leu331Pro Uncertain significance Single submitter
- CPA4 p.Leu420Pro Uncertain significance Single submitter
- CPA4 p.Lys148Asn Uncertain significance Single submitter
- CPA4 p.Lys77Glu Uncertain significance Single submitter
- CPA4 p.Phe21Cys Uncertain significance Single submitter
- CPA4 p.Ser284Leu Uncertain significance Single submitter
- CPA4 p.Ser311Leu Uncertain significance Single submitter
- CPA4 p.Trp369Arg Uncertain significance Single submitter
- CPA4 p.Tyr277His Uncertain significance Single submitter
- CPA4 p.Val199Ile Uncertain significance Single submitter
- CPA4 p.Val229Met Uncertain significance Single submitter
- CPA4 p.Val286Ala Uncertain significance Single submitter
- CPA4 p.Val66Ile Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- CPA4 p.Ala335Val Uncertain significance Single submitter
- CPA4 p.Arg113Trp Uncertain significance Single submitter
- CPA4 p.Arg417Trp Uncertain significance Single submitter
- CPA4 p.Asn33Ser Uncertain significance Single submitter
- CPA4 p.Gln95Lys Uncertain significance Single submitter
- CPA4 p.Glu132Lys Uncertain significance Single submitter
- CPA4 p.Gly374Ser Uncertain significance Single submitter
- CPA4 p.His308Gln Uncertain significance Single submitter
- CPA4 p.Ile91Thr Uncertain significance Single submitter
- CPA4 p.Met413Thr Uncertain significance Single submitter
- CPA4 p.Pro157Leu Uncertain significance Single submitter
- CPA4 p.Pro172Leu Uncertain significance Single submitter
- CPA4 p.Pro57Ser Uncertain significance Single submitter
- CPA4 p.Thr209Ile Uncertain significance Single submitter
- CPA4 p.Tyr421Ser Uncertain significance Single submitter
- CPA4 p.Val64Met Uncertain significance Single submitter
- CPA4 p.Val68Ile Uncertain significance Single submitter
All CPA4 variants
Likely benign 3
- p.Ala144Val Single submitter
- p.Leu219= Single submitter
- p.Trp259Ter Single submitter
Uncertain significance 60
- p.Ala261Ser Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Ala335Val Single submitter ⚠
- p.Ala378Ser Single submitter ⚠
- p.Arg113Gln Single submitter ⚠
- p.Arg113Trp Single submitter ⚠
- p.Arg156Trp Single submitter
- p.Arg242Gln Single submitter
- p.Arg244Gln Single submitter ⚠
- p.Arg32Gly Single submitter ⚠
- p.Arg417Trp Single submitter ⚠
- p.Arg62Gln Single submitter ⚠
- p.Arg62Trp Single submitter ⚠
- p.Asn116Ser Single submitter ⚠
- p.Asn283Ser Single submitter ⚠
- p.Asn33Ser Single submitter ⚠
- p.Asn419Lys Single submitter ⚠
- p.Asp134Gly Single submitter ⚠
- p.Asp372Glu Single submitter ⚠
- p.Asp418Asn Single submitter ⚠
- p.Cys356Phe Single submitter ⚠
- p.Gln95Lys Single submitter ⚠
- p.Glu132Lys Single submitter ⚠
- p.Glu184Gly Single submitter ⚠
- p.Glu213Asp Single submitter ⚠
- p.Glu414Lys Single submitter ⚠
- p.Gly227Val Single submitter ⚠
- p.Gly319Glu Single submitter ⚠
- p.Gly364Arg Single submitter ⚠
- p.Gly374Ser Single submitter ⚠
- p.Gly387Arg Single submitter ⚠
- p.Gly84Ser Single submitter ⚠
- p.His131Tyr Single submitter ⚠
- p.His308Gln Single submitter ⚠
- p.His415Arg Single submitter ⚠
- p.Ile7Thr Single submitter ⚠
- p.Ile91Thr Single submitter ⚠
- p.Leu10Ile Single submitter ⚠
- p.Leu161Pro Single submitter ⚠
- p.Leu331Pro Single submitter ⚠
- p.Leu420Pro Single submitter ⚠
- p.Lys148Asn Single submitter ⚠
- p.Lys77Glu Single submitter ⚠
- p.Met413Thr Single submitter ⚠
- p.Phe21Cys Single submitter ⚠
- p.Pro157Leu Single submitter ⚠
- p.Pro172Leu Single submitter ⚠
- p.Pro57Ser Single submitter ⚠
- p.Ser284Leu Single submitter ⚠
- p.Ser311Leu Single submitter ⚠
- p.Thr209Ile Single submitter ⚠
- p.Trp369Arg Single submitter ⚠
- p.Tyr277His Single submitter ⚠
- p.Tyr421Ser Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val229Met Single submitter ⚠
- p.Val286Ala Single submitter ⚠
- p.Val64Met Single submitter ⚠
- p.Val66Ile Single submitter ⚠
- p.Val68Ile Single submitter ⚠