PFKFB3 — 65 ClinVar variants
All ClinVar germline PFKFB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
1 Benign · 2 Likely benign · 62 Uncertain significance
Full PFKFB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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.
- PFKFB3 p.Ala105Val Uncertain significance Single submitter
- PFKFB3 p.Ala106Asp Uncertain significance Single submitter
- PFKFB3 p.Ala196Thr Uncertain significance Single submitter
- PFKFB3 p.Ala45Thr Uncertain significance Single submitter
- PFKFB3 p.Arg234Cys Uncertain significance Single submitter
- PFKFB3 p.Arg253Trp Uncertain significance Single submitter
- PFKFB3 p.Arg312Gln Uncertain significance Single submitter
- PFKFB3 p.Arg348Gln Uncertain significance Single submitter
- PFKFB3 p.Arg428His Uncertain significance Single submitter
- PFKFB3 p.Arg99Gln Uncertain significance Single submitter
- PFKFB3 p.Asn70Lys Uncertain significance Single submitter
- PFKFB3 p.Asp157Asn Uncertain significance Single submitter
- PFKFB3 p.Cys206Trp Uncertain significance Single submitter
- PFKFB3 p.Gln81Arg Uncertain significance Single submitter
- PFKFB3 p.Glu256Lys Uncertain significance Single submitter
- PFKFB3 p.Glu309Val Uncertain significance Single submitter
- PFKFB3 p.Glu323Lys Uncertain significance Single submitter
- PFKFB3 p.Glu335Lys Uncertain significance Single submitter
- PFKFB3 p.Glu344Lys Uncertain significance Single submitter
- PFKFB3 p.Gly255Ser Uncertain significance Single submitter
- PFKFB3 p.Gly266Arg Uncertain significance Single submitter
- PFKFB3 p.Gly267Cys Uncertain significance Single submitter
- PFKFB3 p.Ile432Val Uncertain significance Single submitter
- PFKFB3 p.Leu261Val Uncertain significance Single submitter
- PFKFB3 p.Leu418Pro Uncertain significance Single submitter
- PFKFB3 p.Leu59Phe Uncertain significance Single submitter
- PFKFB3 p.Lys111Arg Uncertain significance Single submitter
- PFKFB3 p.Met136Val Uncertain significance Single submitter
- PFKFB3 p.Phe149Cys Uncertain significance Single submitter
- PFKFB3 p.Pro358Ser Uncertain significance Single submitter
- PFKFB3 p.Pro372Ser Uncertain significance Single submitter
- PFKFB3 p.Pro408Arg Uncertain significance Single submitter
- PFKFB3 p.Pro408Thr Uncertain significance Single submitter
- PFKFB3 p.Ser153Leu Uncertain significance Single submitter
- PFKFB3 p.Ser273Asn Uncertain significance Single submitter
- PFKFB3 p.Ser303Cys Uncertain significance Single submitter
- PFKFB3 p.Thr307Met Uncertain significance Single submitter
- PFKFB3 p.Tyr345Phe Uncertain significance Single submitter
- PFKFB3 p.Tyr433Cys Uncertain significance Single submitter
- PFKFB3 p.Val168Ala Uncertain significance Single submitter
- PFKFB3 p.Val236Met Uncertain significance Single submitter
- PFKFB3 p.Val286Met Uncertain significance Single submitter
- PFKFB3 p.Val328Ile Uncertain significance Single submitter
- PFKFB3 p.Val37Ile Uncertain significance Single submitter
- PFKFB3 p.Val385Leu Uncertain significance Single submitter
- PFKFB3 p.Val417Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- PFKFB3 p.Arg274Gln Uncertain significance Single submitter
- PFKFB3 p.Arg274Trp Uncertain significance Single submitter
- PFKFB3 p.Arg428Cys Uncertain significance Single submitter
- PFKFB3 p.Arg475Cys Uncertain significance Single submitter
- PFKFB3 p.Asn322Ser Uncertain significance Single submitter
- PFKFB3 p.Asp202Asn Uncertain significance Single submitter
- PFKFB3 p.Asp209Val Uncertain significance Single submitter
- PFKFB3 p.Asp401Val Uncertain significance Single submitter
- PFKFB3 p.Glu94Gly Uncertain significance Single submitter
- PFKFB3 p.Ser197Gly Uncertain significance Single submitter
- PFKFB3 p.Ser467Arg Uncertain significance Single submitter
- PFKFB3 p.Ser83Gly Uncertain significance Single submitter
- PFKFB3 p.Thr421Met Uncertain significance Single submitter
- PFKFB3 p.Val391Ile Uncertain significance Single submitter
All PFKFB3 variants
Benign 1
- p.Tyr315= Multiple submitters
Uncertain significance 62
- p.Ala105Val Single submitter ⚠
- p.Ala106Asp Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Arg234Cys Single submitter ⚠
- p.Arg253Trp Single submitter ⚠
- p.Arg274Gln Single submitter ⚠
- p.Arg274Trp Single submitter ⚠
- p.Arg312Gln Single submitter ⚠
- p.Arg348Gln Single submitter ⚠
- p.Arg428Cys Single submitter ⚠
- p.Arg428His Single submitter ⚠
- p.Arg475Cys Single submitter ⚠
- p.Arg99Gln Single submitter ⚠
- p.Asn322Ser Single submitter ⚠
- p.Asn70Lys Single submitter ⚠
- p.Asp157Asn Single submitter ⚠
- p.Asp202Asn Single submitter ⚠
- p.Asp209Val Single submitter ⚠
- p.Asp351Asn Single submitter
- p.Asp401Val Single submitter ⚠
- p.Cys206Trp Single submitter ⚠
- p.Gln81Arg Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu309Val Single submitter ⚠
- p.Glu323Lys Single submitter ⚠
- p.Glu335Lys Single submitter ⚠
- p.Glu344Lys Single submitter ⚠
- p.Glu94Gly Single submitter ⚠
- p.Gly255Ser Single submitter ⚠
- p.Gly266Arg Single submitter ⚠
- p.Gly267Cys Single submitter ⚠
- p.Ile432Val Single submitter ⚠
- p.Leu261Val Single submitter ⚠
- p.Leu418Pro Single submitter ⚠
- p.Leu59Phe Single submitter ⚠
- p.Lys111Arg Single submitter ⚠
- p.Met136Val Single submitter ⚠
- p.Phe149Cys Single submitter ⚠
- p.Pro358Ser Single submitter ⚠
- p.Pro372Ser Single submitter ⚠
- p.Pro408Arg Single submitter ⚠
- p.Pro408Thr Single submitter ⚠
- p.Pro413His Single submitter
- p.Ser153Leu Single submitter ⚠
- p.Ser197Gly Single submitter ⚠
- p.Ser273Asn Single submitter ⚠
- p.Ser303Cys Single submitter ⚠
- p.Ser467Arg Single submitter ⚠
- p.Ser83Gly Single submitter ⚠
- p.Thr307Met Single submitter ⚠
- p.Thr421Met Single submitter ⚠
- p.Tyr345Phe Single submitter ⚠
- p.Tyr433Cys Single submitter ⚠
- p.Val168Ala Single submitter ⚠
- p.Val236Met Single submitter ⚠
- p.Val286Met Single submitter ⚠
- p.Val328Ile Single submitter ⚠
- p.Val37Ile Single submitter ⚠
- p.Val385Leu Single submitter ⚠
- p.Val391Ile Single submitter ⚠
- p.Val417Ile Single submitter ⚠