EIF4ENIF1 — 146 ClinVar variants

All ClinVar germline EIF4ENIF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →

2 Benign · 3 Likely benign · 141 Uncertain significance

Full EIF4ENIF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 136

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 114

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

Predictors split 22

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

All EIF4ENIF1 variants

Benign 2

p.Ala468= Multiple submitters
p.Thr554Pro Single submitter

Likely benign 3

p.Glu33Lys Single submitter
p.Phe15= Single submitter
p.Tyr983= Single submitter

Uncertain significance 141

c.2207-4A>T Single submitter
p.Ala130Thr Single submitter ⚠
p.Ala286Val Single submitter ⚠
p.Ala295Thr Single submitter ⚠
p.Ala626Gly Single submitter ⚠
p.Ala796fs Single submitter
p.Ala880Asp Single submitter ⚠
p.Arg135His Single submitter ⚠
p.Arg135Ser Single submitter ⚠
p.Arg148His Single submitter ⚠
p.Arg154Gly Single submitter ⚠
p.Arg178Trp Single submitter ⚠
p.Arg185Gln Single submitter ⚠
p.Arg203Cys Single submitter ⚠
p.Arg203His Single submitter ⚠
p.Arg208Cys Single submitter ⚠
p.Arg209Lys Single submitter ⚠
p.Arg209Thr Single submitter ⚠
p.Arg255Gln Single submitter ⚠
p.Arg255Gly Single submitter ⚠
p.Arg256Gln Single submitter ⚠
p.Arg256Gly Single submitter ⚠
p.Arg473Gln Single submitter ⚠
p.Arg505Gln Single submitter ⚠
p.Arg574Gln Single submitter ⚠
p.Arg574Leu Single submitter ⚠
p.Arg582His Single submitter ⚠
p.Arg749Gln Single submitter ⚠
p.Arg806Cys Single submitter ⚠
p.Arg806His Single submitter ⚠
p.Arg888Cys Single submitter ⚠
p.Arg904His Single submitter ⚠
p.Arg91Gln Single submitter ⚠
p.Arg944His Single submitter ⚠
p.Arg948Gly Single submitter ⚠
p.Arg96Gly Single submitter ⚠
p.Asn472Ser Single submitter ⚠
p.Asn506Lys Single submitter ⚠
p.Asn542Ser Single submitter ⚠
p.Asn737Lys Single submitter ⚠
p.Asn737Thr Single submitter ⚠
p.Asn756Ser Single submitter ⚠
p.Asp184Asn Single submitter ⚠
p.Asp191Glu Single submitter ⚠
p.Asp325Tyr Single submitter ⚠
p.Asp601Glu Single submitter ⚠
p.Asp748Asn Single submitter ⚠
p.Gln500Leu Single submitter ⚠
p.Gln731Pro Single submitter ⚠
p.Gln842Pro Single submitter ⚠
p.Gln849His Single submitter ⚠
p.Glu10Lys Single submitter ⚠
p.Glu273Lys Single submitter ⚠
p.Glu276Gln Single submitter ⚠
p.Glu421Val Single submitter ⚠
p.Glu425Asp Single submitter ⚠
p.Glu714Asp Single submitter ⚠
p.Glu81Gln Single submitter ⚠
p.Glu86Gln Single submitter ⚠
p.Glu8Ter Single submitter
p.Gly146Ala Single submitter ⚠
p.Gly263Ala Single submitter ⚠
p.Gly677Arg Single submitter ⚠
p.Gly677Glu Single submitter ⚠
p.Gly890Arg Single submitter ⚠
p.Gly913Ala Single submitter ⚠
p.His675Leu Single submitter ⚠
p.His843Tyr Single submitter ⚠
p.His861fs Single submitter
p.His915Arg Single submitter ⚠
p.His943Tyr Single submitter ⚠
p.Ile589Thr Single submitter ⚠
p.Ile869Met Single submitter ⚠
p.Leu110Ser Single submitter
p.Leu41Ile Single submitter ⚠
p.Leu581Phe Single submitter ⚠
p.Leu739Pro Single submitter ⚠
p.Leu771Pro Single submitter ⚠
p.Leu902Ile Single submitter ⚠
p.Leu94Val Single submitter ⚠
p.Lys25Asn Single submitter ⚠
p.Lys420Glu Single submitter ⚠
p.Lys720Ile Single submitter ⚠
p.Lys732Glu Single submitter ⚠
p.Lys791Arg Single submitter ⚠
p.Met491Val Single submitter ⚠
p.Met548Ile Single submitter ⚠
p.Met548Val Single submitter ⚠
p.Met834Ile Single submitter ⚠
p.Met897Val Single submitter ⚠
p.Phe198Ser Single submitter ⚠
p.Phe643Leu Single submitter ⚠
p.Pro358Ser Single submitter ⚠
p.Pro375Ala Single submitter ⚠
p.Pro534Ala Single submitter ⚠
p.Pro595Leu Single submitter ⚠
p.Pro602Ser Single submitter ⚠
p.Pro673Thr Single submitter ⚠
p.Pro72Ser Single submitter ⚠
p.Pro793Ser Single submitter ⚠
p.Pro812Leu Single submitter ⚠
p.Pro855Leu Single submitter ⚠
p.Pro876Ser Single submitter ⚠
p.Pro883Leu Single submitter ⚠
p.Pro887Thr Single submitter ⚠
p.Pro889Ser Single submitter ⚠
p.Pro92Ser Single submitter ⚠
p.Ser120Asn Single submitter ⚠
p.Ser201Gly Single submitter ⚠
p.Ser230Phe Single submitter ⚠
p.Ser379Leu Single submitter ⚠
p.Ser415Asn Single submitter ⚠
p.Ser504Asn Single submitter ⚠
p.Ser545Thr Single submitter ⚠
p.Ser550Gly Single submitter ⚠
p.Ser564Ala Single submitter ⚠
p.Ser618Asn Single submitter ⚠
p.Ser734Gly Single submitter ⚠
p.Ser905Pro Single submitter ⚠
p.Ser932Leu Single submitter ⚠
p.Ser939Ala Single submitter ⚠
p.Ser946Arg Single submitter ⚠
p.Thr165Asn Single submitter ⚠
p.Thr215Lys Single submitter ⚠
p.Thr573Ile Single submitter ⚠
p.Thr592Ser Single submitter ⚠
p.Thr668Ile Single submitter ⚠
p.Thr769Ile Single submitter ⚠
p.Thr794Asn Single submitter ⚠
p.Tyr580Cys Single submitter ⚠
p.Tyr644Phe Single submitter ⚠
p.Tyr71Cys Single submitter ⚠
p.Val131Ile Single submitter ⚠
p.Val265Ile Single submitter ⚠
p.Val291Met Single submitter ⚠
p.Val469Ile Single submitter ⚠
p.Val808Ala Single submitter ⚠
p.Val811Ile Single submitter ⚠
p.Val820Phe Single submitter ⚠
p.Val831Ala Single submitter ⚠
p.Val921Leu Single submitter ⚠