PF4 — 15 ClinVar variants
All ClinVar germline PF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Benign · 14 Uncertain significance
Full PF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PF4 p.Ala5Thr Uncertain significance Single submitter
- PF4 p.Glu59Gln Uncertain significance Single submitter
- PF4 p.Gly13Glu Uncertain significance Single submitter
- PF4 p.Gly37Val Uncertain significance Single submitter
- PF4 p.Gly64Arg Uncertain significance Single submitter
- PF4 p.Lys45Asn Uncertain significance Single submitter
- PF4 p.Lys96Glu Uncertain significance Single submitter
- PF4 p.Phe7Leu Uncertain significance Single submitter
- PF4 p.Thr56Asn Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PF4 variants
Benign 1
- p.Leu72= Multiple submitters
Uncertain significance 14
- p.Ala5Thr Single submitter ⚠
- p.Arg51Cys Single submitter ⚠
- p.Cys67Phe Single submitter ⚠
- p.Glu59Gln Single submitter ⚠
- p.Gly13Glu Single submitter ⚠
- p.Gly18Arg Single submitter ⚠
- p.Gly37Val Single submitter ⚠
- p.Gly64Arg Single submitter ⚠
- p.Ile55Met Single submitter ⚠
- p.Leu84Phe Single submitter ⚠
- p.Lys45Asn Single submitter ⚠
- p.Lys96Glu Single submitter ⚠
- p.Phe7Leu Single submitter ⚠
- p.Thr56Asn Single submitter ⚠