EAF2 — 33 ClinVar variants
All ClinVar germline EAF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Benign · 4 Likely benign · 28 Uncertain significance
Full EAF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EAF2 p.Ala135Ser Uncertain significance Single submitter
- EAF2 p.Asp201Asn Uncertain significance Single submitter
- EAF2 p.Gln221Lys Uncertain significance Single submitter
- EAF2 p.Glu198Asp Uncertain significance Single submitter
- EAF2 p.Gly6Ala Uncertain significance Single submitter
- EAF2 p.Gly78Val Uncertain significance Single submitter
- EAF2 p.His143Arg Uncertain significance Single submitter
- EAF2 p.Met131Leu Uncertain significance Single submitter
- EAF2 p.Met131Thr Uncertain significance Single submitter
- EAF2 p.Phe31Cys Uncertain significance Single submitter
- EAF2 p.Pro145Gln Uncertain significance Single submitter
- EAF2 p.Pro152Ser Uncertain significance Single submitter
- EAF2 p.Ser22Asn Uncertain significance Single submitter
- EAF2 p.Thr220Ser Uncertain significance Single submitter
- EAF2 p.Val53Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- EAF2 p.Arg123Cys Uncertain significance Single submitter
- EAF2 p.Arg123His Uncertain significance Single submitter
- EAF2 p.Arg99Gln Uncertain significance Single submitter
- EAF2 p.Asn211Tyr Uncertain significance Single submitter
- EAF2 p.Asp181Gly Uncertain significance Single submitter
- EAF2 p.Gln26Glu Uncertain significance Single submitter
- EAF2 p.Glu160Lys Uncertain significance Single submitter
- EAF2 p.Gly68Val Uncertain significance Single submitter
- EAF2 p.Leu251Val Uncertain significance Single submitter
- EAF2 p.Ser182Cys Uncertain significance Single submitter
- EAF2 p.Ser190Thr Uncertain significance Single submitter
- EAF2 p.Ser256Asn Likely benign Single submitter
- EAF2 p.Val34Met Uncertain significance Single submitter
All EAF2 variants
Benign 1
- p.Asn232= Single submitter
Likely benign 4
- p.Arg235Gln Single submitter
- p.Asp201= Single submitter
- p.Gly239Asp Single submitter
- p.Ser256Asn Single submitter ⚠
Uncertain significance 28
- c.338+4T>A Single submitter
- p.Ala135Ser Single submitter ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg99Gln Single submitter ⚠
- p.Asn211Tyr Single submitter ⚠
- p.Asp181Gly Single submitter ⚠
- p.Asp201Asn Single submitter ⚠
- p.Gln221Lys Single submitter ⚠
- p.Gln26Glu Single submitter ⚠
- p.Glu160Lys Single submitter ⚠
- p.Glu198Asp Single submitter ⚠
- p.Gly68Val Single submitter ⚠
- p.Gly6Ala Single submitter ⚠
- p.Gly78Val Single submitter ⚠
- p.His143Arg Single submitter ⚠
- p.Leu251Val Single submitter ⚠
- p.Met131Leu Single submitter ⚠
- p.Met131Thr Single submitter ⚠
- p.Phe31Cys Single submitter ⚠
- p.Pro145Gln Single submitter ⚠
- p.Pro152Ser Single submitter ⚠
- p.Ser182Cys Single submitter ⚠
- p.Ser190Thr Single submitter ⚠
- p.Ser22Asn Single submitter ⚠
- p.Thr220Ser Single submitter ⚠
- p.Val34Met Single submitter ⚠
- p.Val53Ile Single submitter ⚠