CDC42EP3 — 42 ClinVar variants
All ClinVar germline CDC42EP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Likely benign · 41 Uncertain significance
Full CDC42EP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDC42EP3 p.Lys46Arg Uncertain significance Multiple submitters
- CDC42EP3 p.Asn62Ser Uncertain significance Single submitter
- CDC42EP3 p.Asp198Asn Uncertain significance Single submitter
- CDC42EP3 p.Cys145Trp Uncertain significance Single submitter
- CDC42EP3 p.Gln154Leu Uncertain significance Single submitter
- CDC42EP3 p.Gln77His Uncertain significance Single submitter
- CDC42EP3 p.Glu64Lys Uncertain significance Single submitter
- CDC42EP3 p.Glu83Gln Uncertain significance Single submitter
- CDC42EP3 p.Gly113Ala Uncertain significance Single submitter
- CDC42EP3 p.Gly136Arg Uncertain significance Single submitter
- CDC42EP3 p.Gly176Ser Uncertain significance Single submitter
- CDC42EP3 p.Gly80Glu Uncertain significance Single submitter
- CDC42EP3 p.Ile112Thr Uncertain significance Single submitter
- CDC42EP3 p.Ile214Thr Uncertain significance Single submitter
- CDC42EP3 p.Ile56Met Uncertain significance Single submitter
- CDC42EP3 p.Lys219Glu Uncertain significance Single submitter
- CDC42EP3 p.Met149Leu Uncertain significance Single submitter
- CDC42EP3 p.Phe205Cys Uncertain significance Single submitter
- CDC42EP3 p.Pro141Leu Uncertain significance Single submitter
- CDC42EP3 p.Pro147Leu Uncertain significance Single submitter
- CDC42EP3 p.Pro208Arg Uncertain significance Single submitter
- CDC42EP3 p.Pro210Thr Uncertain significance Single submitter
- CDC42EP3 p.Pro79Leu Uncertain significance Single submitter
- CDC42EP3 p.Ser124Ala Uncertain significance Single submitter
- CDC42EP3 p.Ser157Arg Uncertain significance Single submitter
- CDC42EP3 p.Ser93Pro Uncertain significance Single submitter
- CDC42EP3 p.Thr98Met Uncertain significance Single submitter
- CDC42EP3 p.Val52Ile Uncertain significance Single submitter
-
CDC42EP3 p.Phe53Ser
Uncertain significance
No assertion criteria
CDC42EP3-related condition
Predictors split 12
The independent predictors disagree with each other — read with care.
- CDC42EP3 p.Asn88Lys Uncertain significance Single submitter
- CDC42EP3 p.Asp92Tyr Uncertain significance Single submitter
- CDC42EP3 p.Glu202Lys Uncertain significance Single submitter
- CDC42EP3 p.Ile25Thr Uncertain significance Single submitter
- CDC42EP3 p.Ile56Thr Uncertain significance Single submitter
- CDC42EP3 p.Ser158Asn Uncertain significance Single submitter
- CDC42EP3 p.Ser171Pro Uncertain significance Single submitter
- CDC42EP3 p.Ser174Phe Uncertain significance Single submitter
- CDC42EP3 p.Ser230Cys Uncertain significance Single submitter
- CDC42EP3 p.Ser27Phe Uncertain significance Single submitter
- CDC42EP3 p.Ser89Asn Uncertain significance Single submitter
- CDC42EP3 p.Val102Leu Uncertain significance Single submitter
All CDC42EP3 variants
Likely benign 1
- p.Met149Val Single submitter
Uncertain significance 41
- p.Lys46Arg Multiple submitters ⚠
- p.Asn62Ser Single submitter ⚠
- p.Asn88Lys Single submitter ⚠
- p.Asp198Asn Single submitter ⚠
- p.Asp92Tyr Single submitter ⚠
- p.Cys145Trp Single submitter ⚠
- p.Gln154Leu Single submitter ⚠
- p.Gln77His Single submitter ⚠
- p.Glu202Lys Single submitter ⚠
- p.Glu64Lys Single submitter ⚠
- p.Glu83Gln Single submitter ⚠
- p.Gly113Ala Single submitter ⚠
- p.Gly136Arg Single submitter ⚠
- p.Gly176Ser Single submitter ⚠
- p.Gly80Glu Single submitter ⚠
- p.Ile112Thr Single submitter ⚠
- p.Ile214Thr Single submitter ⚠
- p.Ile25Thr Single submitter ⚠
- p.Ile56Met Single submitter ⚠
- p.Ile56Thr Single submitter ⚠
- p.Lys219Glu Single submitter ⚠
- p.Met149Leu Single submitter ⚠
- p.Phe205Cys Single submitter ⚠
- p.Pro141Leu Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro208Arg Single submitter ⚠
- p.Pro210Thr Single submitter ⚠
- p.Pro79Leu Single submitter ⚠
- p.Ser124Ala Single submitter ⚠
- p.Ser157Arg Single submitter ⚠
- p.Ser158Asn Single submitter ⚠
- p.Ser171Pro Single submitter ⚠
- p.Ser174Phe Single submitter ⚠
- p.Ser230Cys Single submitter ⚠
- p.Ser27Phe Single submitter ⚠
- p.Ser89Asn Single submitter ⚠
- p.Ser93Pro Single submitter ⚠
- p.Thr98Met Single submitter ⚠
- p.Val102Leu Single submitter ⚠
- p.Val52Ile Single submitter ⚠
- p.Phe53Ser No assertion criteria CDC42EP3-related condition ⚠