EAF1 — 36 ClinVar variants
All ClinVar germline EAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
2 Benign · 1 Likely benign · 33 Uncertain significance
Full EAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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.
- EAF1 p.Ala147Ser Uncertain significance Single submitter
- EAF1 p.Arg233Thr Uncertain significance Single submitter
- EAF1 p.Asn216Ser Uncertain significance Single submitter
- EAF1 p.Asn6Ser Uncertain significance Single submitter
- EAF1 p.Gln107Pro Uncertain significance Single submitter
- EAF1 p.Ile60Thr Uncertain significance Single submitter
- EAF1 p.Lys101Ile Uncertain significance Single submitter
- EAF1 p.Lys84Asn Uncertain significance Single submitter
- EAF1 p.Met143Leu Uncertain significance Single submitter
- EAF1 p.Met187Thr Uncertain significance Single submitter
- EAF1 p.Pro144Ser Uncertain significance Single submitter
- EAF1 p.Ser188Gly Uncertain significance Single submitter
- EAF1 p.Ser225Pro Uncertain significance Single submitter
- EAF1 p.Thr128Ala Uncertain significance Single submitter
- EAF1 p.Thr4Ala Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- EAF1 p.Arg122Gln Uncertain significance Single submitter
- EAF1 p.Arg233Met Uncertain significance Single submitter
- EAF1 p.Arg27Gln Uncertain significance Single submitter
- EAF1 p.Gln107His Uncertain significance Single submitter
- EAF1 p.Gln132Glu Uncertain significance Single submitter
- EAF1 p.Glu214Lys Uncertain significance Single submitter
- EAF1 p.His14Arg Uncertain significance Single submitter
- EAF1 p.Ile119Met Uncertain significance Single submitter
- EAF1 p.Ile33Leu Uncertain significance Single submitter
- EAF1 p.Leu249Arg Uncertain significance Single submitter
- EAF1 p.Pro139Ser Uncertain significance Single submitter
- EAF1 p.Ser104Gly Uncertain significance Single submitter
- EAF1 p.Ser198Phe Uncertain significance Single submitter
- EAF1 p.Ser204Ile Uncertain significance Single submitter
- EAF1 p.Ser241Arg Uncertain significance Single submitter
- EAF1 p.Thr149Met Uncertain significance Single submitter
- EAF1 p.Val58Ile Uncertain significance Single submitter
- EAF1 p.Val98Met Uncertain significance Single submitter
All EAF1 variants
Likely benign 1
- p.Arg242Gln Single submitter
Uncertain significance 33
- p.Ala147Ser Single submitter ⚠
- p.Arg122Gln Single submitter ⚠
- p.Arg233Met Single submitter ⚠
- p.Arg233Thr Single submitter ⚠
- p.Arg27Gln Single submitter ⚠
- p.Asn216Ser Single submitter ⚠
- p.Asn6Ser Single submitter ⚠
- p.Gln107His Single submitter ⚠
- p.Gln107Pro Single submitter ⚠
- p.Gln132Glu Single submitter ⚠
- p.Glu214Lys Single submitter ⚠
- p.His14Arg Single submitter ⚠
- p.Ile119Met Single submitter ⚠
- p.Ile33Leu Single submitter ⚠
- p.Ile60Thr Single submitter ⚠
- p.Leu249Arg Single submitter ⚠
- p.Lys101Ile Single submitter ⚠
- p.Lys84Asn Single submitter ⚠
- p.Met143Leu Single submitter ⚠
- p.Met187Thr Single submitter ⚠
- p.Pro139Ser Single submitter ⚠
- p.Pro144Ser Single submitter ⚠
- p.Ser104Gly Single submitter ⚠
- p.Ser188Gly Single submitter ⚠
- p.Ser198Phe Single submitter ⚠
- p.Ser204Ile Single submitter ⚠
- p.Ser225Pro Single submitter ⚠
- p.Ser241Arg Single submitter ⚠
- p.Thr128Ala Single submitter ⚠
- p.Thr149Met Single submitter ⚠
- p.Thr4Ala Single submitter ⚠
- p.Val58Ile Single submitter ⚠
- p.Val98Met Single submitter ⚠