CDC42EP4 — 83 ClinVar variants
All ClinVar germline CDC42EP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
7 Likely benign · 76 Uncertain significance
Full CDC42EP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDC42EP4 p.Ala127Ser Uncertain significance Single submitter
- CDC42EP4 p.Ala128Thr Uncertain significance Single submitter
- CDC42EP4 p.Ala128Val Uncertain significance Single submitter
- CDC42EP4 p.Ala157Val Uncertain significance Single submitter
- CDC42EP4 p.Ala170Val Uncertain significance Single submitter
- CDC42EP4 p.Ala183Gly Uncertain significance Single submitter
- CDC42EP4 p.Ala252Val Uncertain significance Single submitter
- CDC42EP4 p.Ala290Thr Uncertain significance Single submitter
- CDC42EP4 p.Ala324Asp Uncertain significance Single submitter
- CDC42EP4 p.Arg100His Uncertain significance Single submitter
- CDC42EP4 p.Arg100Ser Uncertain significance Single submitter
- CDC42EP4 p.Arg17His Uncertain significance Single submitter
- CDC42EP4 p.Arg297Cys Uncertain significance Single submitter
- CDC42EP4 p.Arg305Gln Uncertain significance Single submitter
- CDC42EP4 p.Arg305Gly Uncertain significance Single submitter
- CDC42EP4 p.Arg305Trp Uncertain significance Single submitter
- CDC42EP4 p.Arg321His Uncertain significance Single submitter
- CDC42EP4 p.Arg326Trp Uncertain significance Single submitter
- CDC42EP4 p.Arg332Gln Uncertain significance Single submitter
- CDC42EP4 p.Arg355Gly Uncertain significance Single submitter
- CDC42EP4 p.Arg355His Uncertain significance Single submitter
- CDC42EP4 p.Arg35Cys Uncertain significance Single submitter
- CDC42EP4 p.Arg42Trp Uncertain significance Single submitter
- CDC42EP4 p.Arg76His Uncertain significance Single submitter
- CDC42EP4 p.Arg84Trp Uncertain significance Single submitter
- CDC42EP4 p.Asn148Lys Uncertain significance Single submitter
- CDC42EP4 p.Asn148Ser Uncertain significance Single submitter
- CDC42EP4 p.Asn54Ser Uncertain significance Single submitter
- CDC42EP4 p.Asp154Asn Uncertain significance Single submitter
- CDC42EP4 p.Asp329Tyr Uncertain significance Single submitter
- CDC42EP4 p.Glu229Asp Uncertain significance Single submitter
- CDC42EP4 p.Glu233Lys Uncertain significance Single submitter
- CDC42EP4 p.Glu236Lys Uncertain significance Single submitter
- CDC42EP4 p.Glu25Lys Uncertain significance Single submitter
- CDC42EP4 p.Glu67Gln Uncertain significance Single submitter
- CDC42EP4 p.Glu67Lys Uncertain significance Single submitter
- CDC42EP4 p.Glu96Lys Uncertain significance Single submitter
- CDC42EP4 p.Gly104Ser Uncertain significance Single submitter
- CDC42EP4 p.Gly171Arg Uncertain significance Single submitter
- CDC42EP4 p.Gly244Ala Uncertain significance Single submitter
- CDC42EP4 p.Gly285Glu Uncertain significance Single submitter
- CDC42EP4 p.Gly294Ser Uncertain significance Single submitter
- CDC42EP4 p.Gly327Arg Uncertain significance Single submitter
- CDC42EP4 p.Gly62Ser Uncertain significance Single submitter
- CDC42EP4 p.His279Tyr Uncertain significance Single submitter
- CDC42EP4 p.His302Arg Uncertain significance Single submitter
- CDC42EP4 p.Leu103Pro Uncertain significance Single submitter
- CDC42EP4 p.Lys145Met Uncertain significance Single submitter
- CDC42EP4 p.Met117Leu Uncertain significance Single submitter
- CDC42EP4 p.Met299Ile Uncertain significance Single submitter
- CDC42EP4 p.Phe325Leu Uncertain significance Single submitter
- CDC42EP4 p.Pro177Ser Uncertain significance Single submitter
- CDC42EP4 p.Pro261Ser Uncertain significance Single submitter
- CDC42EP4 p.Pro277Ser Uncertain significance Single submitter
- CDC42EP4 p.Ser174Phe Uncertain significance Single submitter
- CDC42EP4 p.Ser292Cys Uncertain significance Single submitter
- CDC42EP4 p.Ser308Ile Uncertain significance Single submitter
- CDC42EP4 p.Thr159Ala Uncertain significance Single submitter
- CDC42EP4 p.Thr197Met Uncertain significance Single submitter
- CDC42EP4 p.Trp286Cys Uncertain significance Single submitter
- CDC42EP4 p.Val257Met Uncertain significance Single submitter
- CDC42EP4 p.Val335Ile Uncertain significance Single submitter
- CDC42EP4 p.Val40Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CDC42EP4 p.Ala203Val Uncertain significance Single submitter
- CDC42EP4 p.Arg107Trp Uncertain significance Single submitter
- CDC42EP4 p.Arg16His Uncertain significance Single submitter
- CDC42EP4 p.Arg76Cys Uncertain significance Single submitter
- CDC42EP4 p.Arg88Trp Uncertain significance Single submitter
- CDC42EP4 p.Asp33Asn Uncertain significance Single submitter
- CDC42EP4 p.Glu350Lys Uncertain significance Single submitter
- CDC42EP4 p.Gly199Arg Uncertain significance Single submitter
- CDC42EP4 p.His202Gln Uncertain significance Single submitter
- CDC42EP4 p.Leu222Phe Uncertain significance Single submitter
- CDC42EP4 p.Ser80Phe Uncertain significance Single submitter
All CDC42EP4 variants
Likely benign 7
- p.Ala20Val Single submitter
- p.Ala256Thr Single submitter
- p.Asp149Ala Single submitter
- p.Gly235Glu Single submitter
- p.Pro254Leu Single submitter
- p.Ser133Gly Single submitter
- p.Val335Leu Single submitter
Uncertain significance 76
- p.Ala127Ser Single submitter ⚠
- p.Ala128Thr Single submitter ⚠
- p.Ala128Val Single submitter ⚠
- p.Ala157Val Single submitter ⚠
- p.Ala170Val Single submitter ⚠
- p.Ala183Gly Single submitter ⚠
- p.Ala203Val Single submitter ⚠
- p.Ala252Val Single submitter ⚠
- p.Ala290Thr Single submitter ⚠
- p.Ala324Asp Single submitter ⚠
- p.Ala46Thr Single submitter
- p.Arg100His Single submitter ⚠
- p.Arg100Ser Single submitter ⚠
- p.Arg107Trp Single submitter ⚠
- p.Arg16His Single submitter ⚠
- p.Arg17His Single submitter ⚠
- p.Arg297Cys Single submitter ⚠
- p.Arg305Gln Single submitter ⚠
- p.Arg305Gly Single submitter ⚠
- p.Arg305Trp Single submitter ⚠
- p.Arg321His Single submitter ⚠
- p.Arg326Trp Single submitter ⚠
- p.Arg332Gln Single submitter ⚠
- p.Arg355Cys Single submitter
- p.Arg355Gly Single submitter ⚠
- p.Arg355His Single submitter ⚠
- p.Arg35Cys Single submitter ⚠
- p.Arg42Trp Single submitter ⚠
- p.Arg76Cys Single submitter ⚠
- p.Arg76His Single submitter ⚠
- p.Arg84Trp Single submitter ⚠
- p.Arg88Trp Single submitter ⚠
- p.Asn148Lys Single submitter ⚠
- p.Asn148Ser Single submitter ⚠
- p.Asn54Ser Single submitter ⚠
- p.Asp154Asn Single submitter ⚠
- p.Asp329Tyr Single submitter ⚠
- p.Asp33Asn Single submitter ⚠
- p.Glu229Asp Single submitter ⚠
- p.Glu233Lys Single submitter ⚠
- p.Glu236Lys Single submitter ⚠
- p.Glu25Lys Single submitter ⚠
- p.Glu350Lys Single submitter ⚠
- p.Glu67Gln Single submitter ⚠
- p.Glu67Lys Single submitter ⚠
- p.Glu96Lys Single submitter ⚠
- p.Gly104Ser Single submitter ⚠
- p.Gly171Arg Single submitter ⚠
- p.Gly199Arg Single submitter ⚠
- p.Gly244Ala Single submitter ⚠
- p.Gly285Glu Single submitter ⚠
- p.Gly294Ser Single submitter ⚠
- p.Gly327Arg Single submitter ⚠
- p.Gly62Ser Single submitter ⚠
- p.His202Gln Single submitter ⚠
- p.His279Tyr Single submitter ⚠
- p.His302Arg Single submitter ⚠
- p.Leu103Pro Single submitter ⚠
- p.Leu222Phe Single submitter ⚠
- p.Lys145Met Single submitter ⚠
- p.Met117Leu Single submitter ⚠
- p.Met299Ile Single submitter ⚠
- p.Phe325Leu Single submitter ⚠
- p.Pro177Ser Single submitter ⚠
- p.Pro261Ser Single submitter ⚠
- p.Pro277Ser Single submitter ⚠
- p.Ser174Phe Single submitter ⚠
- p.Ser292Cys Single submitter ⚠
- p.Ser308Ile Single submitter ⚠
- p.Ser80Phe Single submitter ⚠
- p.Thr159Ala Single submitter ⚠
- p.Thr197Met Single submitter ⚠
- p.Trp286Cys Single submitter ⚠
- p.Val257Met Single submitter ⚠
- p.Val335Ile Single submitter ⚠
- p.Val40Ile Single submitter ⚠