CYP2E1 — 64 ClinVar variants
All ClinVar germline CYP2E1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
7 Benign · 10 Likely benign · 47 Uncertain significance
Full CYP2E1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP2E1 p.Ala105Val Uncertain significance Single submitter
- CYP2E1 p.Ala175Val Uncertain significance Single submitter
- CYP2E1 p.Ala294Ser Uncertain significance Single submitter
- CYP2E1 p.Arg263Gln Uncertain significance Single submitter
- CYP2E1 p.Arg282His Uncertain significance Single submitter
- CYP2E1 p.Asn52Ser Uncertain significance Single submitter
- CYP2E1 p.Asp267Asn Uncertain significance Single submitter
- CYP2E1 p.Asp405Glu Uncertain significance Single submitter
- CYP2E1 p.Gln345Arg Uncertain significance Single submitter
- CYP2E1 p.His370Arg Uncertain significance Single submitter
- CYP2E1 p.Ile236Leu Uncertain significance Single submitter
- CYP2E1 p.Ile476Thr Uncertain significance Single submitter
- CYP2E1 p.Leu154Arg Uncertain significance Single submitter
- CYP2E1 p.Leu17Phe Uncertain significance Single submitter
- CYP2E1 p.Lys243Glu Uncertain significance Single submitter
- CYP2E1 p.Lys434Arg Uncertain significance Single submitter
- CYP2E1 p.Met350Arg Uncertain significance Single submitter
- CYP2E1 p.Met77Leu Uncertain significance Single submitter
- CYP2E1 p.Pro33Thr Uncertain significance Single submitter
- CYP2E1 p.Thr303Ile Uncertain significance Single submitter
- CYP2E1 p.Tyr71Phe Uncertain significance Single submitter
- CYP2E1 p.Val291Met Uncertain significance Single submitter
- CYP2E1 p.Val396Asp Uncertain significance Single submitter
- CYP2E1 p.Val78Met Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- CYP2E1 p.His457Leu Benign Multiple submitters
- CYP2E1 p.Ala352Gly Uncertain significance Single submitter
- CYP2E1 p.Arg379Gly Uncertain significance Single submitter
- CYP2E1 p.Arg484Cys Uncertain significance Single submitter
- CYP2E1 p.Arg59Gln Likely benign Single submitter
- CYP2E1 p.Arg63Gly Uncertain significance Single submitter
- CYP2E1 p.Asn219Asp Likely benign Single submitter
- CYP2E1 p.Asp465Val Uncertain significance Single submitter
- CYP2E1 p.Cys261Gly Uncertain significance Single submitter
- CYP2E1 p.Glu96Asp Uncertain significance Single submitter
- CYP2E1 p.Gly43Arg Uncertain significance Single submitter
- CYP2E1 p.His475Pro Uncertain significance Single submitter
- CYP2E1 p.Ile329Thr Uncertain significance Single submitter
- CYP2E1 p.Ile357Met Uncertain significance Single submitter
- CYP2E1 p.Ile383Met Uncertain significance Single submitter
- CYP2E1 p.Leu133Phe Uncertain significance Single submitter
- CYP2E1 p.Leu449Ile Uncertain significance Single submitter
- CYP2E1 p.Met350Val Uncertain significance Single submitter
- CYP2E1 p.Phe224Ser Uncertain significance Single submitter
- CYP2E1 p.Pro104Leu Uncertain significance Single submitter
- CYP2E1 p.Pro104Ser Uncertain significance Single submitter
- CYP2E1 p.Pro120Leu Uncertain significance Single submitter
- CYP2E1 p.Pro165Ala Uncertain significance Single submitter
- CYP2E1 p.Pro213Ser Uncertain significance Single submitter
- CYP2E1 p.Pro429Ala Likely benign Single submitter
- CYP2E1 p.Tyr245Cys Uncertain significance Single submitter
- CYP2E1 p.Val396Leu Likely benign Single submitter
- CYP2E1 p.Val464Ile Uncertain significance Single submitter
All CYP2E1 variants
Benign 7
Likely benign 10
- p.Arg484His Single submitter
- p.Arg59Gln Single submitter ⚠
- p.Asn219Asp Single submitter ⚠
- p.Asn260Ser Single submitter
- p.His208= Single submitter
- p.His208Tyr Single submitter
- p.Phe46Leu Single submitter
- p.Pro429Ala Single submitter ⚠
- p.Val242Ile Single submitter
- p.Val396Leu Single submitter ⚠
Uncertain significance 47
- p.Ala105Val Single submitter ⚠
- p.Ala175Val Single submitter ⚠
- p.Ala294Ser Single submitter ⚠
- p.Ala352Gly Single submitter ⚠
- p.Arg263Gln Single submitter ⚠
- p.Arg282His Single submitter ⚠
- p.Arg379Gly Single submitter ⚠
- p.Arg484Cys Single submitter ⚠
- p.Arg63Gly Single submitter ⚠
- p.Asn52Ser Single submitter ⚠
- p.Asp267Asn Single submitter ⚠
- p.Asp405Glu Single submitter ⚠
- p.Asp465Val Single submitter ⚠
- p.Cys261Gly Single submitter ⚠
- p.Gln345Arg Single submitter ⚠
- p.Glu96Asp Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.His370Arg Single submitter ⚠
- p.His475Pro Single submitter ⚠
- p.Ile236Leu Single submitter ⚠
- p.Ile329Thr Single submitter ⚠
- p.Ile357Met Single submitter ⚠
- p.Ile383Met Single submitter ⚠
- p.Ile476Thr Single submitter ⚠
- p.Leu133Phe Single submitter ⚠
- p.Leu154Arg Single submitter ⚠
- p.Leu17Phe Single submitter ⚠
- p.Leu449Ile Single submitter ⚠
- p.Lys243Glu Single submitter ⚠
- p.Lys434Arg Single submitter ⚠
- p.Met350Arg Single submitter ⚠
- p.Met350Val Single submitter ⚠
- p.Met77Leu Single submitter ⚠
- p.Phe224Ser Single submitter ⚠
- p.Pro104Leu Single submitter ⚠
- p.Pro104Ser Single submitter ⚠
- p.Pro120Leu Single submitter ⚠
- p.Pro165Ala Single submitter ⚠
- p.Pro213Ser Single submitter ⚠
- p.Pro33Thr Single submitter ⚠
- p.Thr303Ile Single submitter ⚠
- p.Tyr245Cys Single submitter ⚠
- p.Tyr71Phe Single submitter ⚠
- p.Val291Met Single submitter ⚠
- p.Val396Asp Single submitter ⚠
- p.Val464Ile Single submitter ⚠
- p.Val78Met Single submitter ⚠