KEAP1 — 62 ClinVar variants
All ClinVar germline KEAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Benign · 2 Benign/Likely benign · 9 Likely benign · 50 Uncertain significance
Full KEAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KEAP1 p.Ala30Val Uncertain significance Single submitter
- KEAP1 p.Ala331Val Uncertain significance Single submitter
- KEAP1 p.Ala376Thr Uncertain significance Single submitter
- KEAP1 p.Ala407Thr Uncertain significance Single submitter
- KEAP1 p.Arg15Gln Uncertain significance Single submitter
- KEAP1 p.Arg326His Uncertain significance Single submitter
- KEAP1 p.Arg380Lys Uncertain significance Single submitter
- KEAP1 p.Arg447Gln Uncertain significance Single submitter
- KEAP1 p.Arg498Gln Uncertain significance Single submitter
- KEAP1 p.Arg614Trp Uncertain significance Single submitter
- KEAP1 p.Asn251Ser Uncertain significance Single submitter
- KEAP1 p.Asn485Lys Uncertain significance Single submitter
- KEAP1 p.Asn49Ser Uncertain significance Single submitter
- KEAP1 p.Asp349Glu Uncertain significance Single submitter
- KEAP1 p.Asp589Asn Uncertain significance Single submitter
- KEAP1 p.Gln259Arg Uncertain significance Single submitter
- KEAP1 p.Gln62Lys Uncertain significance Single submitter
- KEAP1 p.Glu134Lys Uncertain significance Single submitter
- KEAP1 p.Glu198Ala Uncertain significance Single submitter
- KEAP1 p.Glu496Lys Uncertain significance Single submitter
- KEAP1 p.Gly371Ser Uncertain significance Single submitter
- KEAP1 p.His200Tyr Uncertain significance Single submitter
- KEAP1 p.His247Asp Uncertain significance Single submitter
- KEAP1 p.Ile425Val Uncertain significance Single submitter
- KEAP1 p.Ile500Val Uncertain significance Single submitter
- KEAP1 p.Lys254Arg Uncertain significance Single submitter
- KEAP1 p.Met499Val Uncertain significance Single submitter
- KEAP1 p.Pro24Leu Uncertain significance Single submitter
- KEAP1 p.Pro3Leu Uncertain significance Single submitter
- KEAP1 p.Pro408Thr Uncertain significance Single submitter
- KEAP1 p.Ser340Asn Uncertain significance Single submitter
- KEAP1 p.Ser363Asn Uncertain significance Single submitter
- KEAP1 p.Thr330Ser Uncertain significance Single submitter
- KEAP1 p.Thr623Ala Uncertain significance Single submitter
- KEAP1 p.Val176Met Uncertain significance Single submitter
- KEAP1 p.Val316Met Uncertain significance Single submitter
- KEAP1 p.Val420Leu Uncertain significance Single submitter
- KEAP1 p.Val440Ala Uncertain significance Single submitter
- KEAP1 p.Val440Met Uncertain significance Single submitter
- KEAP1 p.Val514Ile Uncertain significance Single submitter
- KEAP1 p.Val568Ile Uncertain significance Single submitter
- KEAP1 p.Val594Met Uncertain significance Single submitter
- KEAP1 p.Val83Phe Uncertain significance Single submitter
- KEAP1 p.Arg272Cys Uncertain significance No assertion criteria
Predictors split 3
The independent predictors disagree with each other — read with care.
All KEAP1 variants
Benign 1
- c.1326-10G>A Single submitter
Likely benign 9
- p.Asn157= Single submitter
- p.Asp529= Single submitter
- p.Gln620del Single submitter
- p.Gly372= Single submitter
- p.Pro384= Single submitter
- p.Pro408Ser Single submitter
- p.Ser404Leu Single submitter
- p.Ser508= Single submitter
- p.Val369Ala Single submitter
Uncertain significance 50
- p.Ala30Val Single submitter ⚠
- p.Ala331Val Single submitter ⚠
- p.Ala376Thr Single submitter ⚠
- p.Ala407Thr Single submitter ⚠
- p.Arg15Gln Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg380Lys Single submitter ⚠
- p.Arg447Gln Single submitter ⚠
- p.Arg498Gln Single submitter ⚠
- p.Arg614Trp Single submitter ⚠
- p.Asn251Ser Single submitter ⚠
- p.Asn485Lys Single submitter ⚠
- p.Asn49Ser Single submitter ⚠
- p.Asp349Glu Single submitter ⚠
- p.Asp589Asn Single submitter ⚠
- p.Gln259Arg Single submitter ⚠
- p.Gln62Lys Single submitter ⚠
- p.Glu134Lys Single submitter ⚠
- p.Glu198Ala Single submitter ⚠
- p.Glu496Lys Single submitter ⚠
- p.Gly371Ser Single submitter ⚠
- p.His200Tyr Single submitter ⚠
- p.His247Asp Single submitter ⚠
- p.Ile425Val Single submitter ⚠
- p.Ile500Val Single submitter ⚠
- p.Leu223Met Single submitter ⚠
- p.Leu557Val Single submitter
- p.Lys254Arg Single submitter ⚠
- p.Met120Thr Single submitter ⚠
- p.Met499Val Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro3Leu Single submitter ⚠
- p.Pro408Thr Single submitter ⚠
- p.Ser340Asn Single submitter ⚠
- p.Ser363Asn Single submitter ⚠
- p.Thr330Ser Single submitter ⚠
- p.Thr623Ala Single submitter ⚠
- p.Val176Met Single submitter ⚠
- p.Val316Met Single submitter ⚠
- p.Val377Leu Single submitter
- p.Val420Leu Single submitter ⚠
- p.Val440Ala Single submitter ⚠
- p.Val440Met Single submitter ⚠
- p.Val475Met Single submitter
- p.Val514Ile Single submitter ⚠
- p.Val547Leu Single submitter ⚠
- p.Val568Ile Single submitter ⚠
- p.Val594Met Single submitter ⚠
- p.Val83Phe Single submitter ⚠
- p.Arg272Cys No assertion criteria ⚠