PEBP1 — 11 ClinVar variants
All ClinVar germline PEBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
2 Benign · 1 Likely benign · 8 Uncertain significance
Full PEBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PEBP1 p.Gln127His Uncertain significance Single submitter
- PEBP1 p.Gln22His Uncertain significance Single submitter
- PEBP1 p.Gly10Ala Uncertain significance Single submitter
- PEBP1 p.Pro130Leu Uncertain significance Single submitter
- PEBP1 p.Pro130Ser Uncertain significance Single submitter
- PEBP1 p.Pro71Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All PEBP1 variants
Benign 2
- p.Asn95Ser Multiple submitters
- p.His145Tyr Multiple submitters
Likely benign 1
- p.Arg161Gly Single submitter
Uncertain significance 8
- p.Gln127His Single submitter ⚠
- p.Gln22His Single submitter ⚠
- p.Glu126Lys Single submitter ⚠
- p.Gly10Ala Single submitter ⚠
- p.Pro130Leu Single submitter ⚠
- p.Pro130Ser Single submitter ⚠
- p.Pro71Leu Single submitter ⚠
- p.Val27Ala Single submitter ⚠