CDC42EP5 — 49 ClinVar variants
All ClinVar germline CDC42EP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
2 Likely benign · 47 Uncertain significance
Full CDC42EP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDC42EP5 p.Ala116Thr Uncertain significance Single submitter
- CDC42EP5 p.Ala121Val Uncertain significance Single submitter
- CDC42EP5 p.Ala132Asp Uncertain significance Single submitter
- CDC42EP5 p.Ala62Thr Uncertain significance Single submitter
- CDC42EP5 p.Ala67Asp Uncertain significance Single submitter
- CDC42EP5 p.Ala67Gly Uncertain significance Single submitter
- CDC42EP5 p.Ala67Thr Uncertain significance Single submitter
- CDC42EP5 p.Ala75Gly Uncertain significance Single submitter
- CDC42EP5 p.Arg124Cys Uncertain significance Single submitter
- CDC42EP5 p.Arg133His Uncertain significance Single submitter
- CDC42EP5 p.Arg31Gln Uncertain significance Single submitter
- CDC42EP5 p.Arg69Cys Uncertain significance Single submitter
- CDC42EP5 p.Arg69His Uncertain significance Single submitter
- CDC42EP5 p.Asn137His Uncertain significance Single submitter
- CDC42EP5 p.Asn137Ser Uncertain significance Single submitter
- CDC42EP5 p.Gln11Lys Uncertain significance Single submitter
- CDC42EP5 p.Gly105Arg Uncertain significance Single submitter
- CDC42EP5 p.Gly126Ala Uncertain significance Single submitter
- CDC42EP5 p.Gly147Ser Uncertain significance Single submitter
- CDC42EP5 p.Gly28Asp Uncertain significance Single submitter
- CDC42EP5 p.Gly8Ser Uncertain significance Single submitter
- CDC42EP5 p.His35Tyr Uncertain significance Single submitter
- CDC42EP5 p.Leu148Val Uncertain significance Single submitter
- CDC42EP5 p.Leu93Val Uncertain significance Single submitter
- CDC42EP5 p.Lys118Asn Uncertain significance Single submitter
- CDC42EP5 p.Phe48Leu Uncertain significance Single submitter
- CDC42EP5 p.Pro123Arg Uncertain significance Single submitter
- CDC42EP5 p.Pro129Arg Uncertain significance Single submitter
- CDC42EP5 p.Pro57Ser Uncertain significance Single submitter
- CDC42EP5 p.Pro72Leu Uncertain significance Single submitter
- CDC42EP5 p.Pro77Leu Uncertain significance Single submitter
- CDC42EP5 p.Pro77Ser Uncertain significance Single submitter
- CDC42EP5 p.Pro84Leu Uncertain significance Single submitter
- CDC42EP5 p.Pro87Gln Uncertain significance Single submitter
- CDC42EP5 p.Pro97Leu Uncertain significance Single submitter
- CDC42EP5 p.Ser24Cys Uncertain significance Single submitter
- CDC42EP5 p.Ser24Tyr Uncertain significance Single submitter
- CDC42EP5 p.Ser47Leu Uncertain significance Single submitter
- CDC42EP5 p.Val145Gly Uncertain significance Single submitter
- CDC42EP5 p.Val36Gly Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CDC42EP5 p.Arg18Cys Uncertain significance Single submitter
- CDC42EP5 p.Leu95Gln Uncertain significance Single submitter
- CDC42EP5 p.Pro63His Uncertain significance Single submitter
- CDC42EP5 p.Ser50Arg Uncertain significance Single submitter
- CDC42EP5 p.Val106Asp Uncertain significance Single submitter
- CDC42EP5 p.Val106Leu Uncertain significance Single submitter
All CDC42EP5 variants
Likely benign 2
- p.Gln131Lys Single submitter
- p.Pro125Ser Single submitter
Uncertain significance 47
- p.Ala116Thr Single submitter ⚠
- p.Ala121Val Single submitter ⚠
- p.Ala132Asp Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Ala67Asp Single submitter ⚠
- p.Ala67Gly Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Ala75Gly Single submitter ⚠
- p.Arg124Cys Single submitter ⚠
- p.Arg133His Single submitter ⚠
- p.Arg18Cys Single submitter ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg38Gly Single submitter
- p.Arg69Cys Single submitter ⚠
- p.Arg69His Single submitter ⚠
- p.Asn137His Single submitter ⚠
- p.Asn137Ser Single submitter ⚠
- p.Gln11Lys Single submitter ⚠
- p.Gly105Arg Single submitter ⚠
- p.Gly126Ala Single submitter ⚠
- p.Gly147Ser Single submitter ⚠
- p.Gly28Asp Single submitter ⚠
- p.Gly8Ser Single submitter ⚠
- p.His35Tyr Single submitter ⚠
- p.Leu148Val Single submitter ⚠
- p.Leu93Val Single submitter ⚠
- p.Leu95Gln Single submitter ⚠
- p.Lys118Asn Single submitter ⚠
- p.Phe48Leu Single submitter ⚠
- p.Pro123Arg Single submitter ⚠
- p.Pro129Arg Single submitter ⚠
- p.Pro57Ser Single submitter ⚠
- p.Pro63His Single submitter ⚠
- p.Pro72Leu Single submitter ⚠
- p.Pro77Leu Single submitter ⚠
- p.Pro77Ser Single submitter ⚠
- p.Pro84Leu Single submitter ⚠
- p.Pro87Gln Single submitter ⚠
- p.Pro97Leu Single submitter ⚠
- p.Ser24Cys Single submitter ⚠
- p.Ser24Tyr Single submitter ⚠
- p.Ser47Leu Single submitter ⚠
- p.Ser50Arg Single submitter ⚠
- p.Val106Asp Single submitter ⚠
- p.Val106Leu Single submitter ⚠
- p.Val145Gly Single submitter ⚠
- p.Val36Gly Single submitter ⚠