PFKFB2 — 58 ClinVar variants
All ClinVar germline PFKFB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
2 Likely benign · 56 Uncertain significance
Full PFKFB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PFKFB2 p.Ala109Val Uncertain significance Single submitter
- PFKFB2 p.Ala115Val Uncertain significance Single submitter
- PFKFB2 p.Ala129Val Uncertain significance Single submitter
- PFKFB2 p.Ala282Thr Uncertain significance Single submitter
- PFKFB2 p.Arg22Gln Uncertain significance Single submitter
- PFKFB2 p.Arg372Gln Uncertain significance Single submitter
- PFKFB2 p.Arg372Trp Uncertain significance Single submitter
- PFKFB2 p.Arg382Cys Uncertain significance Single submitter
- PFKFB2 p.Arg396Cys Uncertain significance Single submitter
- PFKFB2 p.Arg477Lys Uncertain significance Single submitter
- PFKFB2 p.Arg478His Uncertain significance Single submitter
- PFKFB2 p.Arg496His Uncertain significance Single submitter
- PFKFB2 p.Arg49Trp Uncertain significance Single submitter
- PFKFB2 p.Arg60Cys Uncertain significance Single submitter
- PFKFB2 p.Arg60His Uncertain significance Single submitter
- PFKFB2 p.Asn12Tyr Uncertain significance Single submitter
- PFKFB2 p.Asn385Ser Uncertain significance Single submitter
- PFKFB2 p.Asn474Lys Uncertain significance Single submitter
- PFKFB2 p.Asp112Ala Uncertain significance Single submitter
- PFKFB2 p.Asp159Glu Uncertain significance Single submitter
- PFKFB2 p.Asp447Asn Uncertain significance Single submitter
- PFKFB2 p.Asp505His Uncertain significance Single submitter
- PFKFB2 p.Asp89Asn Uncertain significance Single submitter
- PFKFB2 p.Cys105Ser Uncertain significance Single submitter
- PFKFB2 p.Glu291Asp Uncertain significance Single submitter
- PFKFB2 p.Glu293Gln Uncertain significance Single submitter
- PFKFB2 p.Gly330Asp Uncertain significance Single submitter
- PFKFB2 p.Gly330Ser Uncertain significance Single submitter
- PFKFB2 p.His257Pro Uncertain significance Single submitter
- PFKFB2 p.Ile164Thr Uncertain significance Single submitter
- PFKFB2 p.Ile219Val Uncertain significance Single submitter
- PFKFB2 p.Ile476Val Uncertain significance Single submitter
- PFKFB2 p.Leu21Phe Uncertain significance Single submitter
- PFKFB2 p.Leu265Met Uncertain significance Single submitter
- PFKFB2 p.Leu304Ser Uncertain significance Single submitter
- PFKFB2 p.Leu495Pro Uncertain significance Single submitter
- PFKFB2 p.Lys237Arg Uncertain significance Single submitter
- PFKFB2 p.Lys436Gln Uncertain significance Single submitter
- PFKFB2 p.Met43Val Uncertain significance Single submitter
- PFKFB2 p.Met500Thr Uncertain significance Single submitter
- PFKFB2 p.Ser275Leu Uncertain significance Single submitter
- PFKFB2 p.Ser472Asn Uncertain significance Single submitter
- PFKFB2 p.Tyr116His Uncertain significance Single submitter
- PFKFB2 p.Val42Ile Uncertain significance Single submitter
- PFKFB2 p.Val460Leu Uncertain significance Single submitter
- PFKFB2 p.Val54Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- PFKFB2 p.Arg134Gln Uncertain significance Single submitter
- PFKFB2 p.Arg134Trp Uncertain significance Single submitter
- PFKFB2 p.Asn443His Uncertain significance Single submitter
- PFKFB2 p.Asp352Asn Uncertain significance Single submitter
- PFKFB2 p.Glu261Lys Uncertain significance Single submitter
- PFKFB2 p.Glu341Lys Uncertain significance Single submitter
- PFKFB2 p.Gly315Arg Uncertain significance Single submitter
- PFKFB2 p.Thr307Ser Uncertain significance Single submitter
All PFKFB2 variants
Likely benign 2
- p.Arg343Gln Single submitter
- p.Arg461His Single submitter
Uncertain significance 56
- p.Ala109Val Single submitter ⚠
- p.Ala115Val Single submitter ⚠
- p.Ala129Val Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Arg134Gln Single submitter ⚠
- p.Arg134Trp Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg372Gln Single submitter ⚠
- p.Arg372Trp Single submitter ⚠
- p.Arg382Cys Single submitter ⚠
- p.Arg396Cys Single submitter ⚠
- p.Arg477Lys Single submitter ⚠
- p.Arg478His Single submitter ⚠
- p.Arg496His Single submitter ⚠
- p.Arg49Trp Single submitter ⚠
- p.Arg60Cys Single submitter ⚠
- p.Arg60His Single submitter ⚠
- p.Asn12Tyr Single submitter ⚠
- p.Asn385Ser Single submitter ⚠
- p.Asn443His Single submitter ⚠
- p.Asn474Lys Single submitter ⚠
- p.Asp112Ala Single submitter ⚠
- p.Asp159Glu Single submitter ⚠
- p.Asp352Asn Single submitter ⚠
- p.Asp447Asn Single submitter ⚠
- p.Asp505His Single submitter ⚠
- p.Asp89Asn Single submitter ⚠
- p.Cys105Ser Single submitter ⚠
- p.Glu195Val Single submitter
- p.Glu261Lys Single submitter ⚠
- p.Glu291Asp Single submitter ⚠
- p.Glu293Gln Single submitter ⚠
- p.Glu341Lys Single submitter ⚠
- p.Gly315Arg Single submitter ⚠
- p.Gly330Asp Single submitter ⚠
- p.Gly330Ser Single submitter ⚠
- p.His257Pro Single submitter ⚠
- p.Ile164Thr Single submitter ⚠
- p.Ile219Val Single submitter ⚠
- p.Ile476Val Single submitter ⚠
- p.Leu21Phe Single submitter ⚠
- p.Leu265Met Single submitter ⚠
- p.Leu304Ser Single submitter ⚠
- p.Leu495Pro Single submitter ⚠
- p.Lys192Thr Single submitter
- p.Lys237Arg Single submitter ⚠
- p.Lys436Gln Single submitter ⚠
- p.Met43Val Single submitter ⚠
- p.Met500Thr Single submitter ⚠
- p.Ser275Leu Single submitter ⚠
- p.Ser472Asn Single submitter ⚠
- p.Thr307Ser Single submitter ⚠
- p.Tyr116His Single submitter ⚠
- p.Val42Ile Single submitter ⚠
- p.Val460Leu Single submitter ⚠
- p.Val54Met Single submitter ⚠