POLR2E — 30 ClinVar variants
All ClinVar germline POLR2E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Pathogenic · 1 Benign · 2 Likely benign · 26 Uncertain significance
Full POLR2E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- POLR2E p.Arg101Gln Uncertain significance Single submitter
- POLR2E p.Arg162Pro Uncertain significance Single submitter
- POLR2E p.Arg181Cys Uncertain significance Single submitter
- POLR2E p.Arg24Cys Uncertain significance Single submitter
- POLR2E p.Arg52Gln Uncertain significance Single submitter
- POLR2E p.Gln169His Uncertain significance Single submitter
- POLR2E p.Gly184Trp Uncertain significance Single submitter
- POLR2E p.Leu135Pro Uncertain significance Single submitter
- POLR2E p.Leu159Pro Uncertain significance Single submitter
- POLR2E p.Leu165Val Uncertain significance Single submitter
- POLR2E p.Lys192Glu Uncertain significance Single submitter
- POLR2E p.Lys192Met Uncertain significance Single submitter
- POLR2E p.Met151Val Uncertain significance Single submitter
- POLR2E p.Met94Val Uncertain significance Single submitter
- POLR2E p.Pro112Ser Uncertain significance Single submitter
- POLR2E p.Thr7Pro Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- POLR2E p.Arg187His Uncertain significance Single submitter
- POLR2E p.Asp120Asn Uncertain significance Single submitter
- POLR2E p.Asp3Ala Uncertain significance Single submitter
- POLR2E p.Asp70Glu Uncertain significance Single submitter
- POLR2E p.Gln108Pro Uncertain significance Single submitter
- POLR2E p.Leu37Arg Uncertain significance Single submitter
- POLR2E p.Pro77Ala Uncertain significance Single submitter
- POLR2E p.Ser49Asn Uncertain significance Single submitter
- POLR2E p.Thr100Ile Uncertain significance Single submitter
All POLR2E variants
Pathogenic 1
- c.233-2A>G No assertion criteria Short stature
Benign 1
- p.Pro53= Multiple submitters
Uncertain significance 26
- p.Arg101Gln Single submitter ⚠
- p.Arg162Pro Single submitter ⚠
- p.Arg181Cys Single submitter ⚠
- p.Arg187His Single submitter ⚠
- p.Arg24Cys Single submitter ⚠
- p.Arg52Gln Single submitter ⚠
- p.Asp120Asn Single submitter ⚠
- p.Asp3Ala Single submitter ⚠
- p.Asp70Glu Single submitter ⚠
- p.Gln108Pro Single submitter ⚠
- p.Gln169His Single submitter ⚠
- p.Gly184Trp Single submitter ⚠
- p.Leu135Pro Single submitter ⚠
- p.Leu159Pro Single submitter ⚠
- p.Leu165Val Single submitter ⚠
- p.Leu37Arg Single submitter ⚠
- p.Lys192Glu Single submitter ⚠
- p.Lys192Met Single submitter ⚠
- p.Met110Val Single submitter
- p.Met151Val Single submitter ⚠
- p.Met94Val Single submitter ⚠
- p.Pro112Ser Single submitter ⚠
- p.Pro77Ala Single submitter ⚠
- p.Ser49Asn Single submitter ⚠
- p.Thr100Ile Single submitter ⚠
- p.Thr7Pro Single submitter ⚠