E4F1 — 140 ClinVar variants

All ClinVar germline E4F1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

1 Likely pathogenic · 9 Likely benign · 130 Uncertain significance

Full E4F1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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.

E4F1 p.Lys144Gln Likely pathogenic Single submitter
pyruvate dehydrogenase deficiency

Predictors lean, ClinVar uncertain 73

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 58

The independent predictors disagree with each other — read with care.

All E4F1 variants

Likely pathogenic 1

p.Lys144Gln Single submitter pyruvate dehydrogenase deficiency ⚠

Likely benign 9

p.Ala134Thr Single submitter
p.Ala301Ser Single submitter
p.Ala406Gly Single submitter
p.Ala466Val Single submitter ⚠
p.Arg293Pro Single submitter
p.Pro614= Single submitter
p.Ser135Pro Single submitter
p.Thr458Ala Single submitter
p.Thr93= Single submitter

Uncertain significance 130

p.Ala124Val Single submitter ⚠
p.Ala152Val Single submitter ⚠
p.Ala15Thr Single submitter ⚠
p.Ala21Asp Single submitter ⚠
p.Ala21Ser Single submitter ⚠
p.Ala292Thr Single submitter ⚠
p.Ala29Val Single submitter ⚠
p.Ala350Asp Single submitter ⚠
p.Ala448Asp Single submitter ⚠
p.Ala464Ser Single submitter ⚠
p.Ala585Thr Single submitter ⚠
p.Ala615Val Single submitter ⚠
p.Ala637Asp Single submitter ⚠
p.Ala648Glu Single submitter ⚠
p.Ala651Gly Single submitter ⚠
p.Ala651Val Single submitter ⚠
p.Ala684Thr Single submitter ⚠
p.Ala69Thr Single submitter ⚠
p.Ala6Val Single submitter ⚠
p.Ala700Val Single submitter ⚠
p.Ala708Thr Single submitter ⚠
p.Ala728Ser Single submitter ⚠
p.Ala765Thr Single submitter ⚠
p.Ala98Gly Single submitter ⚠
p.Arg230Cys Single submitter ⚠
p.Arg258Trp Single submitter ⚠
p.Arg278Cys Single submitter ⚠
p.Arg278His Single submitter ⚠
p.Arg384Leu Single submitter ⚠
p.Arg461Lys Single submitter ⚠
p.Arg487Cys Single submitter ⚠
p.Arg487Pro Single submitter ⚠
p.Arg489Cys Single submitter ⚠
p.Arg489His Single submitter ⚠
p.Arg490His Single submitter ⚠
p.Arg527Cys Single submitter ⚠
p.Arg527His Single submitter ⚠
p.Arg554Cys Single submitter ⚠
p.Arg564Gln Single submitter ⚠
p.Arg595Leu Single submitter ⚠
p.Arg62Cys Single submitter ⚠
p.Arg62His Single submitter ⚠
p.Arg84Gln Single submitter ⚠
p.Asp495Asn Single submitter ⚠
p.Asp515Gly Single submitter ⚠
p.Asp53Glu Single submitter ⚠
p.Asp650Asn Single submitter ⚠
p.Cys468Phe Single submitter ⚠
p.Cys549Gly Single submitter ⚠
p.Gln102Arg Single submitter ⚠
p.Gln411His Single submitter ⚠
p.Glu153Asp Single submitter ⚠
p.Glu161Lys Single submitter ⚠
p.Glu24Gly Single submitter ⚠
p.Glu313Gln Single submitter ⚠
p.Glu313Val Single submitter ⚠
p.Glu52Asp Single submitter ⚠
p.Glu611Gly Single submitter ⚠
p.Glu623Lys Single submitter ⚠
p.Glu645Gln Single submitter ⚠
p.Glu697Lys Single submitter ⚠
p.Glu704Gln Single submitter ⚠
p.Glu733Lys Single submitter ⚠
p.Gly101Asp Single submitter ⚠
p.Gly170Arg Single submitter ⚠
p.Gly28Ser Single submitter ⚠
p.Gly387Arg Single submitter ⚠
p.Gly390Val Single submitter ⚠
p.Gly469Asp Single submitter ⚠
p.Gly588Ser Single submitter ⚠
p.His13Pro Single submitter ⚠
p.His372Tyr Single submitter ⚠
p.His505Arg Single submitter ⚠
p.His509Tyr Single submitter ⚠
p.His680Gln Single submitter ⚠
p.Ile660Phe Single submitter ⚠
p.Ile660Thr Single submitter ⚠
p.Leu173Phe Single submitter ⚠
p.Leu37Phe Single submitter ⚠
p.Leu450Pro Single submitter ⚠
p.Leu499Phe Single submitter ⚠
p.Lys144Arg Single submitter ⚠
p.Lys480Asn Single submitter ⚠
p.Met725Val Single submitter ⚠
p.Phe575Cys Single submitter ⚠
p.Pro109Leu Single submitter ⚠
p.Pro163Leu Single submitter ⚠
p.Pro354Ser Single submitter ⚠
p.Pro410Leu Single submitter ⚠
p.Pro438Ser Single submitter ⚠
p.Pro520Ser Single submitter ⚠
p.Pro546Leu Single submitter ⚠
p.Pro546Ser Single submitter ⚠
p.Pro625Leu Single submitter ⚠
p.Pro86Leu Single submitter ⚠
p.Pro87Leu Single submitter ⚠
p.Ser126Pro Single submitter ⚠
p.Ser132Asn Single submitter ⚠
p.Ser205Cys Single submitter ⚠
p.Ser228Phe Single submitter ⚠
p.Ser362Phe Single submitter ⚠
p.Ser401Asn Single submitter ⚠
p.Ser401Gly Single submitter ⚠
p.Ser426Arg Single submitter ⚠
p.Ser633Pro Single submitter ⚠
p.Ser683Arg Single submitter ⚠
p.Ser729Leu Single submitter ⚠
p.Ser732Gly Single submitter ⚠
p.Thr10Ser Single submitter ⚠
p.Thr14Met Single submitter ⚠
p.Thr14Ser Single submitter ⚠
p.Thr203Met Single submitter ⚠
p.Thr243Met Single submitter ⚠
p.Thr274Ile Single submitter ⚠
p.Thr317Ala Single submitter ⚠
p.Thr458Ile Single submitter ⚠
p.Thr618Asn Single submitter ⚠
p.Thr622Met Single submitter ⚠
p.Thr665Arg Single submitter ⚠
p.Val146Asp Single submitter ⚠
p.Val148Leu Single submitter ⚠
p.Val310Leu Single submitter ⚠
p.Val331Ile Single submitter ⚠
p.Val548Glu Single submitter ⚠
p.Val609Leu Single submitter ⚠
p.Val635Ala Single submitter ⚠
p.Val635Met Single submitter ⚠
p.Val690Met Single submitter ⚠
p.Val754Ala Single submitter ⚠
p.Val782Ile Single submitter ⚠