POLR1E — 52 ClinVar variants
All ClinVar germline POLR1E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
1 Likely benign · 51 Uncertain significance
Full POLR1E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- POLR1E p.Ala123Val Uncertain significance Single submitter
- POLR1E p.Ala288Thr Uncertain significance Single submitter
- POLR1E p.Ala372Gly Uncertain significance Single submitter
- POLR1E p.Ala3Val Uncertain significance Single submitter
- POLR1E p.Arg166Cys Uncertain significance Single submitter
- POLR1E p.Arg236Lys Uncertain significance Single submitter
- POLR1E p.Arg272His Uncertain significance Single submitter
- POLR1E p.Arg272Leu Uncertain significance Single submitter
- POLR1E p.Arg287Gln Uncertain significance Single submitter
- POLR1E p.Arg325Trp Uncertain significance Single submitter
- POLR1E p.Arg40Ser Uncertain significance Single submitter
- POLR1E p.Arg411His Uncertain significance Single submitter
- POLR1E p.Arg411Leu Uncertain significance Single submitter
- POLR1E p.Asn250Lys Uncertain significance Single submitter
- POLR1E p.Asn30Ser Uncertain significance Single submitter
- POLR1E p.Asn38Asp Uncertain significance Single submitter
- POLR1E p.Asp18Asn Uncertain significance Single submitter
- POLR1E p.Gln229Arg Uncertain significance Single submitter
- POLR1E p.Glu119Lys Uncertain significance Single submitter
- POLR1E p.Glu173Lys Uncertain significance Single submitter
- POLR1E p.Glu217Gly Uncertain significance Single submitter
- POLR1E p.Gly160Asp Uncertain significance Single submitter
- POLR1E p.Gly90Glu Uncertain significance Single submitter
- POLR1E p.Ile175Val Uncertain significance Single submitter
- POLR1E p.Ile247Thr Uncertain significance Single submitter
- POLR1E p.Ile341Val Uncertain significance Single submitter
- POLR1E p.Leu25Val Uncertain significance Single submitter
- POLR1E p.Leu298Val Uncertain significance Single submitter
- POLR1E p.Met368Ile Uncertain significance Single submitter
- POLR1E p.Met99Thr Uncertain significance Single submitter
- POLR1E p.Pro111Thr Uncertain significance Single submitter
- POLR1E p.Pro405Leu Uncertain significance Single submitter
- POLR1E p.Thr178Met Uncertain significance Single submitter
- POLR1E p.Val116Ile Uncertain significance Single submitter
- POLR1E p.Val213Met Uncertain significance Single submitter
- POLR1E p.Val238Ile Uncertain significance Single submitter
- POLR1E p.Val267Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- POLR1E p.Arg275Leu Uncertain significance Single submitter
- POLR1E p.Arg376Thr Uncertain significance Single submitter
- POLR1E p.Arg411Cys Uncertain significance Single submitter
- POLR1E p.Arg415Trp Uncertain significance Single submitter
- POLR1E p.Arg53Gly Uncertain significance Single submitter
- POLR1E p.Asp330Tyr Uncertain significance Single submitter
- POLR1E p.Glu211Lys Uncertain significance Single submitter
- POLR1E p.Gly389Ser Uncertain significance Single submitter
- POLR1E p.Lys381Asn Uncertain significance Single submitter
- POLR1E p.Met109Ile Uncertain significance Single submitter
- POLR1E p.Ser96Cys Uncertain significance Single submitter
- POLR1E p.Tyr339Cys Uncertain significance Single submitter
All POLR1E variants
Likely benign 1
- p.Val386Leu Single submitter
Uncertain significance 51
- p.Ala123Val Single submitter ⚠
- p.Ala288Thr Single submitter ⚠
- p.Ala372Gly Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Arg166Cys Single submitter ⚠
- p.Arg236Lys Single submitter ⚠
- p.Arg272His Single submitter ⚠
- p.Arg272Leu Single submitter ⚠
- p.Arg275Leu Single submitter ⚠
- p.Arg287Gln Single submitter ⚠
- p.Arg325Trp Single submitter ⚠
- p.Arg376Thr Single submitter ⚠
- p.Arg40Ser Single submitter ⚠
- p.Arg411Cys Single submitter ⚠
- p.Arg411His Single submitter ⚠
- p.Arg411Leu Single submitter ⚠
- p.Arg415Trp Single submitter ⚠
- p.Arg53Gly Single submitter ⚠
- p.Asn250Lys Single submitter ⚠
- p.Asn30Ser Single submitter ⚠
- p.Asn38Asp Single submitter ⚠
- p.Asn73Ser Single submitter
- p.Asp18Asn Single submitter ⚠
- p.Asp330Tyr Single submitter ⚠
- p.Gln229Arg Single submitter ⚠
- p.Glu119Lys Single submitter ⚠
- p.Glu173Lys Single submitter ⚠
- p.Glu211Lys Single submitter ⚠
- p.Glu217Gly Single submitter ⚠
- p.Gly160Asp Single submitter ⚠
- p.Gly389Ser Single submitter ⚠
- p.Gly90Glu Single submitter ⚠
- p.Ile175Val Single submitter ⚠
- p.Ile247Thr Single submitter ⚠
- p.Ile341Val Single submitter ⚠
- p.Leu25Val Single submitter ⚠
- p.Leu298Val Single submitter ⚠
- p.Lys381Asn Single submitter ⚠
- p.Met109Ile Single submitter ⚠
- p.Met368Ile Single submitter ⚠
- p.Met99Thr Single submitter ⚠
- p.Pro111Thr Single submitter ⚠
- p.Pro405Leu Single submitter ⚠
- p.Ser96Cys Single submitter ⚠
- p.Thr178Met Single submitter ⚠
- p.Tyr339Cys Single submitter ⚠
- p.Tyr44His Single submitter
- p.Val116Ile Single submitter ⚠
- p.Val213Met Single submitter ⚠
- p.Val238Ile Single submitter ⚠
- p.Val267Met Single submitter ⚠