EEF2K — 141 ClinVar variants
All ClinVar germline EEF2K variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
2 Likely benign · 139 Uncertain significance
Full EEF2K gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EEF2K p.Ala158Asp Uncertain significance Single submitter
- EEF2K p.Ala306Val Uncertain significance Single submitter
- EEF2K p.Ala558Thr Uncertain significance Single submitter
- EEF2K p.Ala617Val Uncertain significance Single submitter
- EEF2K p.Ala76Val Uncertain significance Single submitter
- EEF2K p.Arg114Gln Uncertain significance Single submitter
- EEF2K p.Arg200Trp Uncertain significance Single submitter
- EEF2K p.Arg247Cys Uncertain significance Single submitter
- EEF2K p.Arg316Gln Uncertain significance Single submitter
- EEF2K p.Arg316Leu Uncertain significance Single submitter
- EEF2K p.Arg331Gln Uncertain significance Single submitter
- EEF2K p.Arg363Thr Uncertain significance Single submitter
- EEF2K p.Arg433Leu Uncertain significance Single submitter
- EEF2K p.Arg448Gln Uncertain significance Single submitter
- EEF2K p.Arg448Gly Uncertain significance Single submitter
- EEF2K p.Arg466Gln Uncertain significance Single submitter
- EEF2K p.Arg532Cys Uncertain significance Single submitter
- EEF2K p.Arg538His Uncertain significance Single submitter
- EEF2K p.Arg664Gln Uncertain significance Single submitter
- EEF2K p.Arg9Cys Uncertain significance Single submitter
- EEF2K p.Arg9His Uncertain significance Single submitter
- EEF2K p.Asn339Lys Uncertain significance Single submitter
- EEF2K p.Asn431Ser Uncertain significance Single submitter
- EEF2K p.Asp126Val Uncertain significance Single submitter
- EEF2K p.Asp179Asn Uncertain significance Single submitter
- EEF2K p.Asp249Glu Uncertain significance Single submitter
- EEF2K p.Asp334Glu Uncertain significance Single submitter
- EEF2K p.Asp382Glu Uncertain significance Single submitter
- EEF2K p.Asp425Glu Uncertain significance Single submitter
- EEF2K p.Asp430Gly Uncertain significance Single submitter
- EEF2K p.Asp453Val Uncertain significance Single submitter
- EEF2K p.Asp584Asn Uncertain significance Single submitter
- EEF2K p.Asp657Asn Uncertain significance Single submitter
- EEF2K p.Gln660Lys Uncertain significance Single submitter
- EEF2K p.Glu196Lys Uncertain significance Single submitter
- EEF2K p.Glu197Gly Uncertain significance Single submitter
- EEF2K p.Glu319Gln Uncertain significance Single submitter
- EEF2K p.Glu535Lys Uncertain significance Single submitter
- EEF2K p.Glu671Lys Uncertain significance Single submitter
- EEF2K p.Gly139Ser Uncertain significance Single submitter
- EEF2K p.Gly163Val Uncertain significance Single submitter
- EEF2K p.Gly234Asp Uncertain significance Single submitter
- EEF2K p.Gly301Asp Uncertain significance Single submitter
- EEF2K p.Gly381Arg Uncertain significance Single submitter
- EEF2K p.Gly442Arg Uncertain significance Single submitter
- EEF2K p.Gly449Ser Uncertain significance Single submitter
- EEF2K p.Gly476Ser Uncertain significance Single submitter
- EEF2K p.Gly524Glu Uncertain significance Single submitter
- EEF2K p.Gly537Arg Uncertain significance Single submitter
- EEF2K p.Gly562Asp Uncertain significance Single submitter
- EEF2K p.Gly571Arg Uncertain significance Single submitter
- EEF2K p.Gly654Arg Uncertain significance Single submitter
- EEF2K p.Gly654Ser Uncertain significance Single submitter
- EEF2K p.His230Arg Uncertain significance Single submitter
- EEF2K p.His554Tyr Uncertain significance Single submitter
- EEF2K p.His80Tyr Uncertain significance Single submitter
- EEF2K p.Ile287Met Uncertain significance Single submitter
- EEF2K p.Leu63Pro Uncertain significance Single submitter
- EEF2K p.Lys192Glu Uncertain significance Single submitter
- EEF2K p.Lys205Arg Uncertain significance Single submitter
- EEF2K p.Lys238Arg Uncertain significance Single submitter
- EEF2K p.Met385Ile Uncertain significance Single submitter
- EEF2K p.Phe263Ser Uncertain significance Single submitter
- EEF2K p.Phe326Ser Uncertain significance Single submitter
- EEF2K p.Phe81Leu Uncertain significance Single submitter
- EEF2K p.Pro255Leu Uncertain significance Single submitter
- EEF2K p.Pro497Leu Uncertain significance Single submitter
- EEF2K p.Ser404Asn Uncertain significance Single submitter
- EEF2K p.Ser47Thr Uncertain significance Single submitter
- EEF2K p.Ser550Leu Uncertain significance Single submitter
- EEF2K p.Ser575Ala Uncertain significance Single submitter
- EEF2K p.Ser575Leu Uncertain significance Single submitter
- EEF2K p.Ser66Arg Uncertain significance Single submitter
- EEF2K p.Thr113Ile Uncertain significance Single submitter
- EEF2K p.Thr121Ser Uncertain significance Single submitter
- EEF2K p.Thr254Lys Uncertain significance Single submitter
- EEF2K p.Thr254Met Uncertain significance Single submitter
- EEF2K p.Thr289Met Uncertain significance Single submitter
- EEF2K p.Thr291Ala Uncertain significance Single submitter
- EEF2K p.Thr353Pro Uncertain significance Single submitter
- EEF2K p.Thr364Asn Uncertain significance Single submitter
- EEF2K p.Trp194Cys Uncertain significance Single submitter
- EEF2K p.Trp194Ser Uncertain significance Single submitter
- EEF2K p.Tyr463His Uncertain significance Single submitter
- EEF2K p.Tyr468His Uncertain significance Single submitter
- EEF2K p.Val120Ile Uncertain significance Single submitter
- EEF2K p.Val273Met Uncertain significance Single submitter
- EEF2K p.Val502Met Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- EEF2K p.Ala164Thr Uncertain significance Single submitter
- EEF2K p.Ala169Val Uncertain significance Single submitter
- EEF2K p.Ala313Asp Uncertain significance Single submitter
- EEF2K p.Ala644Thr Uncertain significance Single submitter
- EEF2K p.Ala88Thr Uncertain significance Single submitter
- EEF2K p.Arg111His Uncertain significance Single submitter
- EEF2K p.Arg171Cys Uncertain significance Single submitter
- EEF2K p.Arg178Gln Uncertain significance Single submitter
- EEF2K p.Arg186His Uncertain significance Single submitter
- EEF2K p.Arg265His Uncertain significance Single submitter
- EEF2K p.Arg316Trp Uncertain significance Single submitter
- EEF2K p.Arg331Trp Uncertain significance Single submitter
- EEF2K p.Arg433Gln Uncertain significance Single submitter
- EEF2K p.Arg466Trp Uncertain significance Single submitter
- EEF2K p.Arg493Cys Uncertain significance Single submitter
- EEF2K p.Arg664Trp Uncertain significance Single submitter
- EEF2K p.Arg68Trp Uncertain significance Single submitter
- EEF2K p.Asn250Ile Uncertain significance Single submitter
- EEF2K p.Asn593Lys Uncertain significance Single submitter
- EEF2K p.Asn642Ile Uncertain significance Single submitter
- EEF2K p.Asp179Gly Uncertain significance Single submitter
- EEF2K p.Asp28His Uncertain significance Single submitter
- EEF2K p.Asp30Asn Uncertain significance Single submitter
- EEF2K p.Asp685Asn Uncertain significance Single submitter
- EEF2K p.Asp97Glu Uncertain significance Single submitter
- EEF2K p.Glu145Lys Uncertain significance Single submitter
- EEF2K p.Glu216Gln Uncertain significance Single submitter
- EEF2K p.Glu233Asp Uncertain significance Single submitter
- EEF2K p.Glu34Ala Uncertain significance Single submitter
- EEF2K p.Glu469Lys Uncertain significance Single submitter
- EEF2K p.Glu652Lys Uncertain significance Single submitter
- EEF2K p.Gly352Ala Uncertain significance Single submitter
- EEF2K p.Gly352Arg Uncertain significance Single submitter
- EEF2K p.Gly681Arg Uncertain significance Single submitter
- EEF2K p.His94Pro Uncertain significance Single submitter
- EEF2K p.Leu343Met Uncertain significance Single submitter
- EEF2K p.Met704Val Uncertain significance Single submitter
- EEF2K p.Met95Thr Uncertain significance Single submitter
- EEF2K p.Pro221Arg Uncertain significance Single submitter
- EEF2K p.Pro224Leu Uncertain significance Single submitter
- EEF2K p.Pro330Leu Uncertain significance Single submitter
- EEF2K p.Pro628Leu Uncertain significance Single submitter
- EEF2K p.Ser368Asn Uncertain significance Single submitter
- EEF2K p.Ser386Ile Uncertain significance Single submitter
- EEF2K p.Ser392Cys Uncertain significance Single submitter
- EEF2K p.Ser395Phe Uncertain significance Single submitter
- EEF2K p.Ser477Asn Uncertain significance Single submitter
- EEF2K p.Ser612Cys Uncertain significance Single submitter
- EEF2K p.Thr648Met Uncertain significance Single submitter
- EEF2K p.Trp486Cys Uncertain significance Single submitter
- EEF2K p.Val176Ile Uncertain significance Single submitter
All EEF2K variants
Likely benign 2
- p.Ser423Pro Single submitter
- p.Val481= Single submitter
Uncertain significance 139
- p.Ala158Asp Single submitter ⚠
- p.Ala164Thr Single submitter ⚠
- p.Ala169Val Single submitter ⚠
- p.Ala306Val Single submitter ⚠
- p.Ala313Asp Single submitter ⚠
- p.Ala558Thr Single submitter ⚠
- p.Ala617Val Single submitter ⚠
- p.Ala644Thr Single submitter ⚠
- p.Ala76Val Single submitter ⚠
- p.Ala88Thr Single submitter ⚠
- p.Arg111His Single submitter ⚠
- p.Arg114Gln Single submitter ⚠
- p.Arg171Cys Single submitter ⚠
- p.Arg178Gln Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg200Trp Single submitter ⚠
- p.Arg247Cys Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg316Gln Single submitter ⚠
- p.Arg316Leu Single submitter ⚠
- p.Arg316Trp Single submitter ⚠
- p.Arg331Gln Single submitter ⚠
- p.Arg331Trp Single submitter ⚠
- p.Arg363Thr Single submitter ⚠
- p.Arg433Gln Single submitter ⚠
- p.Arg433Leu Single submitter ⚠
- p.Arg448Gln Single submitter ⚠
- p.Arg448Gly Single submitter ⚠
- p.Arg466Gln Single submitter ⚠
- p.Arg466Trp Single submitter ⚠
- p.Arg493Cys Single submitter ⚠
- p.Arg532Cys Single submitter ⚠
- p.Arg538His Single submitter ⚠
- p.Arg664Gln Single submitter ⚠
- p.Arg664Trp Single submitter ⚠
- p.Arg68Trp Single submitter ⚠
- p.Arg9Cys Single submitter ⚠
- p.Arg9His Single submitter ⚠
- p.Asn250Ile Single submitter ⚠
- p.Asn339Lys Single submitter ⚠
- p.Asn431Ser Single submitter ⚠
- p.Asn593Lys Single submitter ⚠
- p.Asn642Ile Single submitter ⚠
- p.Asp126Val Single submitter ⚠
- p.Asp179Asn Single submitter ⚠
- p.Asp179Gly Single submitter ⚠
- p.Asp249Glu Single submitter ⚠
- p.Asp28His Single submitter ⚠
- p.Asp30Asn Single submitter ⚠
- p.Asp334Glu Single submitter ⚠
- p.Asp382Glu Single submitter ⚠
- p.Asp425Glu Single submitter ⚠
- p.Asp430Gly Single submitter ⚠
- p.Asp453Val Single submitter ⚠
- p.Asp584Asn Single submitter ⚠
- p.Asp657Asn Single submitter ⚠
- p.Asp685Asn Single submitter ⚠
- p.Asp97Glu Single submitter ⚠
- p.Gln660Lys Single submitter ⚠
- p.Glu145Lys Single submitter ⚠
- p.Glu196Lys Single submitter ⚠
- p.Glu197Gly Single submitter ⚠
- p.Glu216Gln Single submitter ⚠
- p.Glu233Asp Single submitter ⚠
- p.Glu319Gln Single submitter ⚠
- p.Glu34Ala Single submitter ⚠
- p.Glu469Lys Single submitter ⚠
- p.Glu535Lys Single submitter ⚠
- p.Glu652Lys Single submitter ⚠
- p.Glu671Lys Single submitter ⚠
- p.Gly139Ser Single submitter ⚠
- p.Gly163Val Single submitter ⚠
- p.Gly234Asp Single submitter ⚠
- p.Gly301Asp Single submitter ⚠
- p.Gly352Ala Single submitter ⚠
- p.Gly352Arg Single submitter ⚠
- p.Gly381Arg Single submitter ⚠
- p.Gly442Arg Single submitter ⚠
- p.Gly449Ser Single submitter ⚠
- p.Gly476Ser Single submitter ⚠
- p.Gly524Glu Single submitter ⚠
- p.Gly537Arg Single submitter ⚠
- p.Gly562Asp Single submitter ⚠
- p.Gly571Arg Single submitter ⚠
- p.Gly654Arg Single submitter ⚠
- p.Gly654Ser Single submitter ⚠
- p.Gly681Arg Single submitter ⚠
- p.His230Arg Single submitter ⚠
- p.His554Tyr Single submitter ⚠
- p.His80Tyr Single submitter ⚠
- p.His94Pro Single submitter ⚠
- p.Ile287Met Single submitter ⚠
- p.Leu343Met Single submitter ⚠
- p.Leu63Pro Single submitter ⚠
- p.Lys192Glu Single submitter ⚠
- p.Lys205Arg Single submitter ⚠
- p.Lys238Arg Single submitter ⚠
- p.Met385Ile Single submitter ⚠
- p.Met704Val Single submitter ⚠
- p.Met95Thr Single submitter ⚠
- p.Phe263Ser Single submitter ⚠
- p.Phe326Ser Single submitter ⚠
- p.Phe81Leu Single submitter ⚠
- p.Pro221Arg Single submitter ⚠
- p.Pro224Leu Single submitter ⚠
- p.Pro255Leu Single submitter ⚠
- p.Pro330Leu Single submitter ⚠
- p.Pro497Leu Single submitter ⚠
- p.Pro628Leu Single submitter ⚠
- p.Ser368Asn Single submitter ⚠
- p.Ser386Ile Single submitter ⚠
- p.Ser392Cys Single submitter ⚠
- p.Ser395Phe Single submitter ⚠
- p.Ser404Asn Single submitter ⚠
- p.Ser477Asn Single submitter ⚠
- p.Ser47Thr Single submitter ⚠
- p.Ser550Leu Single submitter ⚠
- p.Ser575Ala Single submitter ⚠
- p.Ser575Leu Single submitter ⚠
- p.Ser612Cys Single submitter ⚠
- p.Ser66Arg Single submitter ⚠
- p.Thr113Ile Single submitter ⚠
- p.Thr121Ser Single submitter ⚠
- p.Thr254Lys Single submitter ⚠
- p.Thr254Met Single submitter ⚠
- p.Thr289Met Single submitter ⚠
- p.Thr291Ala Single submitter ⚠
- p.Thr353Pro Single submitter ⚠
- p.Thr364Asn Single submitter ⚠
- p.Thr648Met Single submitter ⚠
- p.Trp194Cys Single submitter ⚠
- p.Trp194Ser Single submitter ⚠
- p.Trp486Cys Single submitter ⚠
- p.Tyr463His Single submitter ⚠
- p.Tyr468His Single submitter ⚠
- p.Val120Ile Single submitter ⚠
- p.Val176Ile Single submitter ⚠
- p.Val273Met Single submitter ⚠
- p.Val502Met Single submitter ⚠