PFKFB4 — 59 ClinVar variants
All ClinVar germline PFKFB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
59 Uncertain significance
Full PFKFB4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PFKFB4 p.Ala231Ser Uncertain significance Single submitter
- PFKFB4 p.Arg115Gln Uncertain significance Single submitter
- PFKFB4 p.Arg138Lys Uncertain significance Single submitter
- PFKFB4 p.Arg182Cys Uncertain significance Single submitter
- PFKFB4 p.Arg237His Uncertain significance Single submitter
- PFKFB4 p.Arg256Gln Uncertain significance Single submitter
- PFKFB4 p.Arg267Trp Uncertain significance Single submitter
- PFKFB4 p.Arg446Trp Uncertain significance Single submitter
- PFKFB4 p.Asn168Ser Uncertain significance Single submitter
- PFKFB4 p.Asn74His Uncertain significance Single submitter
- PFKFB4 p.Asp404His Uncertain significance Single submitter
- PFKFB4 p.Gln371Pro Uncertain significance Single submitter
- PFKFB4 p.Glu433Asp Uncertain significance Single submitter
- PFKFB4 p.Gly149Ser Uncertain significance Single submitter
- PFKFB4 p.Gly175Asp Uncertain significance Single submitter
- PFKFB4 p.Gly258Arg Uncertain significance Single submitter
- PFKFB4 p.Gly266Ser Uncertain significance Single submitter
- PFKFB4 p.Gly99Asp Uncertain significance Single submitter
- PFKFB4 p.Ile195Val Uncertain significance Single submitter
- PFKFB4 p.Ile216Thr Uncertain significance Single submitter
- PFKFB4 p.Ile218Leu Uncertain significance Single submitter
- PFKFB4 p.Leu108Pro Uncertain significance Single submitter
- PFKFB4 p.Leu26Pro Uncertain significance Single submitter
- PFKFB4 p.Leu373Gln Uncertain significance Single submitter
- PFKFB4 p.Lys414Arg Uncertain significance Single submitter
- PFKFB4 p.Pro375Leu Uncertain significance Single submitter
- PFKFB4 p.Pro416Leu Uncertain significance Single submitter
- PFKFB4 p.Pro425Ser Uncertain significance Single submitter
- PFKFB4 p.Pro69Leu Uncertain significance Single submitter
- PFKFB4 p.Ser119Gly Uncertain significance Single submitter
- PFKFB4 p.Ser88Tyr Uncertain significance Single submitter
- PFKFB4 p.Thr134Ile Uncertain significance Single submitter
- PFKFB4 p.Thr444Met Uncertain significance Single submitter
- PFKFB4 p.Thr70Ile Uncertain significance Single submitter
- PFKFB4 p.Tyr198His Uncertain significance Single submitter
- PFKFB4 p.Tyr428Cys Uncertain significance Single submitter
- PFKFB4 p.Val155Ile Uncertain significance Single submitter
- PFKFB4 p.Val172Gly Uncertain significance Single submitter
- PFKFB4 p.Val226Met Uncertain significance Single submitter
- PFKFB4 p.Val299Asp Uncertain significance Single submitter
- PFKFB4 p.Val299Ile Uncertain significance Single submitter
- PFKFB4 p.Val463Asp Uncertain significance Single submitter
- PFKFB4 p.Val82Leu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- PFKFB4 p.Arg116Trp Uncertain significance Single submitter
- PFKFB4 p.Arg267Gln Uncertain significance Single submitter
- PFKFB4 p.Arg71Trp Uncertain significance Single submitter
- PFKFB4 p.Asn132Asp Uncertain significance Single submitter
- PFKFB4 p.Asn74Ser Uncertain significance Single submitter
- PFKFB4 p.Asp328Asn Uncertain significance Single submitter
- PFKFB4 p.Asp81His Uncertain significance Single submitter
- PFKFB4 p.Gly315Arg Uncertain significance Single submitter
- PFKFB4 p.Ile308Val Uncertain significance Single submitter
- PFKFB4 p.Lys422Arg Uncertain significance Single submitter
- PFKFB4 p.Met395Ile Uncertain significance Single submitter
- PFKFB4 p.Val247Met Uncertain significance Single submitter
All PFKFB4 variants
Uncertain significance 59
- p.Ala231Ser Single submitter ⚠
- p.Arg115Gln Single submitter ⚠
- p.Arg116Trp Single submitter ⚠
- p.Arg138Lys Single submitter ⚠
- p.Arg182Cys Single submitter ⚠
- p.Arg237His Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg267Trp Single submitter ⚠
- p.Arg446Trp Single submitter ⚠
- p.Arg71Trp Single submitter ⚠
- p.Asn132Asp Single submitter ⚠
- p.Asn168Ser Single submitter ⚠
- p.Asn74His Single submitter ⚠
- p.Asn74Ser Single submitter ⚠
- p.Asp328Asn Single submitter ⚠
- p.Asp404Asn Single submitter
- p.Asp404His Single submitter ⚠
- p.Asp81His Single submitter ⚠
- p.Cys197Tyr Single submitter
- p.Gln371Pro Single submitter ⚠
- p.Glu312Lys Single submitter
- p.Glu433Asp Single submitter ⚠
- p.Gly149Ser Single submitter ⚠
- p.Gly175Asp Single submitter ⚠
- p.Gly258Arg Single submitter ⚠
- p.Gly266Ser Single submitter ⚠
- p.Gly315Arg Single submitter ⚠
- p.Gly99Asp Single submitter ⚠
- p.His468Tyr Single submitter
- p.Ile195Val Single submitter ⚠
- p.Ile216Thr Single submitter ⚠
- p.Ile218Leu Single submitter ⚠
- p.Ile308Val Single submitter ⚠
- p.Leu108Pro Single submitter ⚠
- p.Leu26Pro Single submitter ⚠
- p.Leu373Gln Single submitter ⚠
- p.Lys414Arg Single submitter ⚠
- p.Lys422Arg Single submitter ⚠
- p.Met395Ile Single submitter ⚠
- p.Pro375Leu Single submitter ⚠
- p.Pro416Leu Single submitter ⚠
- p.Pro425Ser Single submitter ⚠
- p.Pro69Leu Single submitter ⚠
- p.Ser119Gly Single submitter ⚠
- p.Ser88Tyr Single submitter ⚠
- p.Thr134Ile Single submitter ⚠
- p.Thr444Met Single submitter ⚠
- p.Thr70Ile Single submitter ⚠
- p.Tyr198His Single submitter ⚠
- p.Tyr428Cys Single submitter ⚠
- p.Val155Ile Single submitter ⚠
- p.Val172Gly Single submitter ⚠
- p.Val226Met Single submitter ⚠
- p.Val247Met Single submitter ⚠
- p.Val299Asp Single submitter ⚠
- p.Val299Ile Single submitter ⚠
- p.Val463Asp Single submitter ⚠
- p.Val82Leu Single submitter ⚠