EIF5 — 48 ClinVar variants
All ClinVar germline EIF5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
1 Benign/Likely benign · 1 Likely benign · 46 Uncertain significance
Full EIF5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF5 p.Ala124Thr Uncertain significance Single submitter
- EIF5 p.Arg215Gln Uncertain significance Single submitter
- EIF5 p.Arg312Trp Uncertain significance Single submitter
- EIF5 p.Arg372Ser Uncertain significance Single submitter
- EIF5 p.Arg73His Uncertain significance Single submitter
- EIF5 p.Asn186Asp Uncertain significance Single submitter
- EIF5 p.Asn77Ser Uncertain significance Single submitter
- EIF5 p.Asp200Glu Uncertain significance Single submitter
- EIF5 p.Asp396Glu Uncertain significance Single submitter
- EIF5 p.Glu187Gly Uncertain significance Single submitter
- EIF5 p.Glu384Gly Uncertain significance Single submitter
- EIF5 p.His305Gln Uncertain significance Single submitter
- EIF5 p.Ile22Leu Uncertain significance Single submitter
- EIF5 p.Leu142Phe Uncertain significance Single submitter
- EIF5 p.Lys123Asn Uncertain significance Single submitter
- EIF5 p.Lys369Ile Uncertain significance Single submitter
- EIF5 p.Met324Val Uncertain significance Single submitter
- EIF5 p.Pro100Arg Uncertain significance Single submitter
- EIF5 p.Pro190Thr Uncertain significance Single submitter
- EIF5 p.Pro191Ser Uncertain significance Single submitter
- EIF5 p.Ser259Cys Uncertain significance Single submitter
- EIF5 p.Ser79Phe Uncertain significance Single submitter
- EIF5 p.Thr178Ala Uncertain significance Single submitter
- EIF5 p.Trp203Arg Uncertain significance Single submitter
- EIF5 p.Tyr14Cys Uncertain significance Single submitter
- EIF5 p.Val373Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- EIF5 p.Ala368Gly Uncertain significance Single submitter
- EIF5 p.Arg128Gln Uncertain significance Single submitter
- EIF5 p.Arg214Cys Uncertain significance Single submitter
- EIF5 p.Asp200Asn Uncertain significance Single submitter
- EIF5 p.Asp245Gly Uncertain significance Single submitter
- EIF5 p.Asp398His Uncertain significance Single submitter
- EIF5 p.Asp398Val Uncertain significance Single submitter
- EIF5 p.Glu291Gln Uncertain significance Single submitter
- EIF5 p.Glu399Lys Uncertain significance Single submitter
- EIF5 p.Gly152Asp Uncertain significance Single submitter
- EIF5 p.Ile293Met Uncertain significance Single submitter
- EIF5 p.Leu278Ile Uncertain significance Single submitter
- EIF5 p.Leu284Ile Uncertain significance Single submitter
- EIF5 p.Lys155Arg Uncertain significance Single submitter
- EIF5 p.Lys308Asn Uncertain significance Single submitter
- EIF5 p.Ser174Phe Uncertain significance Single submitter
- EIF5 p.Ser355Trp Uncertain significance Single submitter
- EIF5 p.Ser419Leu Uncertain significance Single submitter
- EIF5 p.Thr133Ile Uncertain significance Single submitter
- EIF5 p.Val414Phe Uncertain significance Single submitter
All EIF5 variants
Benign/Likely benign 1
- c.745-8C>T Multiple submitters
Likely benign 1
- p.Thr416Ala Single submitter
Uncertain significance 46
- p.Ala124Thr Single submitter ⚠
- p.Ala368Gly Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg214Cys Single submitter ⚠
- p.Arg215Gln Single submitter ⚠
- p.Arg312Trp Single submitter ⚠
- p.Arg372Ser Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Asn186Asp Single submitter ⚠
- p.Asn77Ser Single submitter ⚠
- p.Asp200Asn Single submitter ⚠
- p.Asp200Glu Single submitter ⚠
- p.Asp245Gly Single submitter ⚠
- p.Asp396Glu Single submitter ⚠
- p.Asp398His Single submitter ⚠
- p.Asp398Val Single submitter ⚠
- p.Glu187Gly Single submitter ⚠
- p.Glu291Gln Single submitter ⚠
- p.Glu384Gly Single submitter ⚠
- p.Glu399Lys Single submitter ⚠
- p.Gly152Asp Single submitter ⚠
- p.His305Gln Single submitter ⚠
- p.Ile22Leu Single submitter ⚠
- p.Ile293Met Single submitter ⚠
- p.Leu142Phe Single submitter ⚠
- p.Leu278Ile Single submitter ⚠
- p.Leu284Ile Single submitter ⚠
- p.Lys123Asn Single submitter ⚠
- p.Lys155Arg Single submitter ⚠
- p.Lys308Asn Single submitter ⚠
- p.Lys369Ile Single submitter ⚠
- p.Met324Val Single submitter ⚠
- p.Pro100Arg Single submitter ⚠
- p.Pro190Thr Single submitter ⚠
- p.Pro191Ser Single submitter ⚠
- p.Ser174Phe Single submitter ⚠
- p.Ser259Cys Single submitter ⚠
- p.Ser355Trp Single submitter ⚠
- p.Ser419Leu Single submitter ⚠
- p.Ser79Phe Single submitter ⚠
- p.Thr133Ile Single submitter ⚠
- p.Thr178Ala Single submitter ⚠
- p.Trp203Arg Single submitter ⚠
- p.Tyr14Cys Single submitter ⚠
- p.Val373Ile Single submitter ⚠
- p.Val414Phe Single submitter ⚠