PEF1 — 45 ClinVar variants
All ClinVar germline PEF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
3 Likely benign · 42 Uncertain significance
Full PEF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PEF1 p.Ala142Thr Uncertain significance Single submitter
- PEF1 p.Ala256Ser Uncertain significance Single submitter
- PEF1 p.Ala263Asp Uncertain significance Single submitter
- PEF1 p.Arg170His Uncertain significance Single submitter
- PEF1 p.Arg195Gln Uncertain significance Single submitter
- PEF1 p.Arg197Cys Uncertain significance Single submitter
- PEF1 p.Arg232His Uncertain significance Single submitter
- PEF1 p.Arg242Cys Uncertain significance Single submitter
- PEF1 p.Arg258Gln Uncertain significance Single submitter
- PEF1 p.Asn114Ser Uncertain significance Single submitter
- PEF1 p.Gln124His Uncertain significance Single submitter
- PEF1 p.Gly109Val Uncertain significance Single submitter
- PEF1 p.Gly44Ser Uncertain significance Single submitter
- PEF1 p.Lys140Arg Uncertain significance Single submitter
- PEF1 p.Lys187Glu Uncertain significance Single submitter
- PEF1 p.Met238Val Uncertain significance Single submitter
- PEF1 p.Pro42Ala Uncertain significance Single submitter
- PEF1 p.Pro57Ala Uncertain significance Single submitter
- PEF1 p.Pro94Ser Uncertain significance Single submitter
- PEF1 p.Ser128Leu Uncertain significance Single submitter
- PEF1 p.Ser96Gly Uncertain significance Single submitter
- PEF1 p.Thr248Ala Uncertain significance Single submitter
- PEF1 p.Thr277Ala Uncertain significance Single submitter
- PEF1 p.Tyr133Cys Uncertain significance Single submitter
- PEF1 p.Tyr174Cys Uncertain significance Single submitter
- PEF1 p.Tyr25Cys Uncertain significance Single submitter
- PEF1 p.Tyr46Phe Uncertain significance Single submitter
- PEF1 p.Tyr4His Uncertain significance Single submitter
- PEF1 p.Tyr64Phe Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- PEF1 p.Arg228His Uncertain significance Single submitter
- PEF1 p.Arg232Cys Uncertain significance Single submitter
- PEF1 p.Asn147Ser Uncertain significance Single submitter
- PEF1 p.Gln184Arg Uncertain significance Single submitter
- PEF1 p.Gln212Arg Uncertain significance Single submitter
- PEF1 p.Ile201Val Uncertain significance Single submitter
- PEF1 p.Met278Ile Uncertain significance Single submitter
- PEF1 p.Pro112Leu Uncertain significance Single submitter
- PEF1 p.Pro112Ser Uncertain significance Single submitter
- PEF1 p.Pro22Leu Uncertain significance Single submitter
- PEF1 p.Tyr81His Uncertain significance Single submitter
All PEF1 variants
Likely benign 3
- p.Arg197His Single submitter
- p.Arg7Gly Single submitter
- p.Asn31Ser Single submitter
Uncertain significance 42
- p.Ala142Thr Single submitter ⚠
- p.Ala256Ser Single submitter ⚠
- p.Ala263Asp Single submitter ⚠
- p.Arg170His Single submitter ⚠
- p.Arg195Gln Single submitter ⚠
- p.Arg197Cys Single submitter ⚠
- p.Arg228His Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Arg232His Single submitter ⚠
- p.Arg242Cys Single submitter ⚠
- p.Arg258Gln Single submitter ⚠
- p.Asn114Ser Single submitter ⚠
- p.Asn147Ser Single submitter ⚠
- p.Gln124His Single submitter ⚠
- p.Gln184Arg Single submitter ⚠
- p.Gln212Arg Single submitter ⚠
- p.Gly109Val Single submitter ⚠
- p.Gly44Ser Single submitter ⚠
- p.Gly56Arg Single submitter
- p.Ile201Val Single submitter ⚠
- p.Lys140Arg Single submitter ⚠
- p.Lys187Glu Single submitter ⚠
- p.Met162Val Single submitter
- p.Met238Val Single submitter ⚠
- p.Met278Ile Single submitter ⚠
- p.Pro112Leu Single submitter ⚠
- p.Pro112Ser Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Pro42Ala Single submitter ⚠
- p.Pro57Ala Single submitter ⚠
- p.Pro94Ser Single submitter ⚠
- p.Ser128Leu Single submitter ⚠
- p.Ser96Gly Single submitter ⚠
- p.Thr248Ala Single submitter ⚠
- p.Thr277Ala Single submitter ⚠
- p.Tyr133Cys Single submitter ⚠
- p.Tyr174Cys Single submitter ⚠
- p.Tyr25Cys Single submitter ⚠
- p.Tyr46Phe Single submitter ⚠
- p.Tyr4His Single submitter ⚠
- p.Tyr64Phe Single submitter ⚠
- p.Tyr81His Single submitter ⚠