CDC42EP2 — 32 ClinVar variants
All ClinVar germline CDC42EP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Benign · 31 Uncertain significance
Full CDC42EP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDC42EP2 p.Ala89Thr Uncertain significance Single submitter
- CDC42EP2 p.Arg22Gln Uncertain significance Single submitter
- CDC42EP2 p.Arg38Cys Uncertain significance Single submitter
- CDC42EP2 p.Arg87Pro Uncertain significance Single submitter
- CDC42EP2 p.Arg94Gln Uncertain significance Single submitter
- CDC42EP2 p.Asn160Ser Uncertain significance Single submitter
- CDC42EP2 p.Asp80Asn Uncertain significance Single submitter
- CDC42EP2 p.Asp80His Uncertain significance Single submitter
- CDC42EP2 p.Ile7Val Uncertain significance Single submitter
- CDC42EP2 p.Leu34Pro Uncertain significance Single submitter
- CDC42EP2 p.Lys105Arg Uncertain significance Single submitter
- CDC42EP2 p.Lys61Asn Uncertain significance Single submitter
- CDC42EP2 p.Met29Thr Uncertain significance Single submitter
- CDC42EP2 p.Pro111Leu Uncertain significance Single submitter
- CDC42EP2 p.Pro140Arg Uncertain significance Single submitter
- CDC42EP2 p.Pro33Ser Uncertain significance Single submitter
- CDC42EP2 p.Pro73Ser Uncertain significance Single submitter
- CDC42EP2 p.Ser56Pro Uncertain significance Single submitter
- CDC42EP2 p.Thr123Ala Uncertain significance Single submitter
- CDC42EP2 p.Thr137Ile Uncertain significance Single submitter
- CDC42EP2 p.Thr68Ser Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CDC42EP2 p.Arg11Cys Uncertain significance Single submitter
- CDC42EP2 p.Arg132His Uncertain significance Single submitter
- CDC42EP2 p.Arg87Cys Uncertain significance Single submitter
- CDC42EP2 p.Glu170Lys Uncertain significance Single submitter
- CDC42EP2 p.Leu174Val Uncertain significance Single submitter
- CDC42EP2 p.Lys61Arg Uncertain significance Single submitter
- CDC42EP2 p.Phe83Leu Uncertain significance Single submitter
- CDC42EP2 p.Ser161Cys Uncertain significance Single submitter
- CDC42EP2 p.Ser178Thr Uncertain significance Single submitter
- CDC42EP2 p.Tyr8Cys Uncertain significance Single submitter
All CDC42EP2 variants
Benign 1
- p.Gly93= Multiple submitters
Uncertain significance 31
- p.Ala89Thr Single submitter ⚠
- p.Arg11Cys Single submitter ⚠
- p.Arg132His Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg38Cys Single submitter ⚠
- p.Arg87Cys Single submitter ⚠
- p.Arg87Pro Single submitter ⚠
- p.Arg94Gln Single submitter ⚠
- p.Asn160Ser Single submitter ⚠
- p.Asp80Asn Single submitter ⚠
- p.Asp80His Single submitter ⚠
- p.Glu170Lys Single submitter ⚠
- p.Ile7Val Single submitter ⚠
- p.Leu174Val Single submitter ⚠
- p.Leu34Pro Single submitter ⚠
- p.Lys105Arg Single submitter ⚠
- p.Lys61Arg Single submitter ⚠
- p.Lys61Asn Single submitter ⚠
- p.Met29Thr Single submitter ⚠
- p.Phe83Leu Single submitter ⚠
- p.Pro111Leu Single submitter ⚠
- p.Pro140Arg Single submitter ⚠
- p.Pro33Ser Single submitter ⚠
- p.Pro73Ser Single submitter ⚠
- p.Ser161Cys Single submitter ⚠
- p.Ser178Thr Single submitter ⚠
- p.Ser56Pro Single submitter ⚠
- p.Thr123Ala Single submitter ⚠
- p.Thr137Ile Single submitter ⚠
- p.Thr68Ser Single submitter ⚠
- p.Tyr8Cys Single submitter ⚠