PRKCE — 46 ClinVar variants
All ClinVar germline PRKCE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 4 Benign · 3 Likely benign · 37 Uncertain significance
Full PRKCE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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PRKCE p.Glu328Gln
Likely pathogenic
Single submitter
PRKCE-associated disorder
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.
- PRKCE p.Arg150Cys Uncertain significance Single submitter
- PRKCE p.Arg150His Uncertain significance Single submitter
- PRKCE p.Arg152Gln Uncertain significance Single submitter
- PRKCE p.Arg481Cys Uncertain significance Single submitter
- PRKCE p.Arg481His Uncertain significance Single submitter
- PRKCE p.Asn315Ser Uncertain significance Single submitter
- PRKCE p.Asp130Glu Uncertain significance Single submitter
- PRKCE p.Asp93Asn Uncertain significance Single submitter
- PRKCE p.Glu487Asp Uncertain significance Single submitter
- PRKCE p.Gly246Ser Uncertain significance Single submitter
- PRKCE p.Ile217Val Uncertain significance Single submitter
- PRKCE p.Ile681Val Uncertain significance Single submitter
- PRKCE p.Lys692Arg Uncertain significance Single submitter
- PRKCE p.Phe484Leu Uncertain significance Single submitter
- PRKCE p.Phe511Cys Uncertain significance Single submitter
- PRKCE p.Phe511Leu Uncertain significance Single submitter
- PRKCE p.Ser134Pro Uncertain significance Single submitter
- PRKCE p.Ser631Arg Uncertain significance Single submitter
- PRKCE p.Tyr512Cys Uncertain significance Single submitter
- PRKCE p.Val308Ile Uncertain significance Single submitter
- PRKCE p.Val3Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- PRKCE p.Ala654Thr Benign Multiple submitters
- PRKCE p.Arg282His Uncertain significance Single submitter
- PRKCE p.Arg510Gln Likely benign Single submitter
- PRKCE p.Arg704Gly Uncertain significance Single submitter
- PRKCE p.Asn45Ser Uncertain significance Single submitter
- PRKCE p.Asp115His Uncertain significance Single submitter
- PRKCE p.Asp660His Uncertain significance Single submitter
- PRKCE p.Gln53Arg Uncertain significance Single submitter
- PRKCE p.Ile689Leu Uncertain significance Single submitter
- PRKCE p.Leu427Val Uncertain significance Single submitter
- PRKCE p.Leu711Val Uncertain significance Single submitter
- PRKCE p.Leu735Arg Uncertain significance Single submitter
- PRKCE p.Lys244Asn Uncertain significance Single submitter
- PRKCE p.Pro507Thr Uncertain significance Single submitter
- PRKCE p.Tyr182Phe Uncertain significance Single submitter
- PRKCE p.Val443Ile Uncertain significance Single submitter
- PRKCE p.Val695Ile Uncertain significance Single submitter
All PRKCE variants
Pathogenic 1
- p.Glu599Lys Single submitter
Likely pathogenic 1
- p.Glu328Gln Single submitter PRKCE-associated disorder ⚠
Benign 4
- p.Ala654Thr Multiple submitters ⚠
- p.Lys437= Multiple submitters
- p.Thr455= Multiple submitters
- c.966+8G>A Single submitter
Likely benign 3
- p.Arg156= Single submitter
- p.Arg510Gln Single submitter ⚠
- p.Ser135= Single submitter
Uncertain significance 37
- p.Arg150Cys Single submitter ⚠
- p.Arg150His Single submitter ⚠
- p.Arg152Gln Single submitter ⚠
- p.Arg282His Single submitter ⚠
- p.Arg481Cys Single submitter ⚠
- p.Arg481His Single submitter ⚠
- p.Arg704Gly Single submitter ⚠
- p.Asn315Ser Single submitter ⚠
- p.Asn45Ser Single submitter ⚠
- p.Asp115His Single submitter ⚠
- p.Asp130Glu Single submitter ⚠
- p.Asp660His Single submitter ⚠
- p.Asp93Asn Single submitter ⚠
- p.Gln53Arg Single submitter ⚠
- p.Glu487Asp Single submitter ⚠
- p.Gly246Ser Single submitter ⚠
- p.Ile217Val Single submitter ⚠
- p.Ile681Val Single submitter ⚠
- p.Ile689Leu Single submitter ⚠
- p.Leu427Val Single submitter ⚠
- p.Leu711Val Single submitter ⚠
- p.Leu735Arg Single submitter ⚠
- p.Lys244Asn Single submitter ⚠
- p.Lys692Arg Single submitter ⚠
- p.Phe484Leu Single submitter ⚠
- p.Phe511Cys Single submitter ⚠
- p.Phe511Leu Single submitter ⚠
- p.Pro507Thr Single submitter ⚠
- p.Ser134Pro Single submitter ⚠
- p.Ser631Arg Single submitter ⚠
- p.Tyr182Phe Single submitter ⚠
- p.Tyr512Cys Single submitter ⚠
- p.Val125fs Single submitter
- p.Val308Ile Single submitter ⚠
- p.Val3Leu Single submitter ⚠
- p.Val443Ile Single submitter ⚠
- p.Val695Ile Single submitter ⚠