PABPC4 — 35 ClinVar variants
All ClinVar germline PABPC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
2 Likely benign · 33 Uncertain significance
Full PABPC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PABPC4 p.Ala34Ser Uncertain significance Single submitter
- PABPC4 p.Ala523Ser Uncertain significance Single submitter
- PABPC4 p.Ala523Val Uncertain significance Single submitter
- PABPC4 p.Ala526Thr Uncertain significance Single submitter
- PABPC4 p.Ala542Val Uncertain significance Single submitter
- PABPC4 p.Ala654Val Uncertain significance Single submitter
- PABPC4 p.Arg166Cys Uncertain significance Single submitter
- PABPC4 p.Arg176His Uncertain significance Single submitter
- PABPC4 p.Arg525Cys Uncertain significance Single submitter
- PABPC4 p.Asp203Val Uncertain significance Single submitter
- PABPC4 p.Asp21Glu Uncertain significance Single submitter
- PABPC4 p.Glu134Lys Uncertain significance Single submitter
- PABPC4 p.Glu250Asp Uncertain significance Single submitter
- PABPC4 p.Gly497Arg Uncertain significance Single submitter
- PABPC4 p.Leu555Val Uncertain significance Single submitter
- PABPC4 p.Pro226Ala Uncertain significance Single submitter
- PABPC4 p.Pro467Thr Uncertain significance Single submitter
- PABPC4 p.Pro538Thr Uncertain significance Single submitter
- PABPC4 p.Pro560Ala Uncertain significance Single submitter
- PABPC4 p.Ser6Thr Uncertain significance Single submitter
- PABPC4 p.Thr461Pro Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- PABPC4 p.Arg419Ser Uncertain significance Single submitter
- PABPC4 p.Arg436His Uncertain significance Single submitter
- PABPC4 p.Arg463Ser Uncertain significance Single submitter
- PABPC4 p.Arg546Cys Uncertain significance Single submitter
- PABPC4 p.Asp243Asn Uncertain significance Single submitter
- PABPC4 p.Leu283Phe Uncertain significance Single submitter
- PABPC4 p.Lys268Arg Uncertain significance Single submitter
- PABPC4 p.Phe262Ser Uncertain significance Single submitter
- PABPC4 p.Pro625Ala Uncertain significance Single submitter
- PABPC4 p.Val338Ile Uncertain significance Single submitter
All PABPC4 variants
Likely benign 2
- p.Gly469= Single submitter
- p.Ile260Val Single submitter
Uncertain significance 33
- p.Ala34Ser Single submitter ⚠
- p.Ala523Ser Single submitter ⚠
- p.Ala523Val Single submitter ⚠
- p.Ala526Thr Single submitter ⚠
- p.Ala542Val Single submitter ⚠
- p.Ala654Val Single submitter ⚠
- p.Arg166Cys Single submitter ⚠
- p.Arg176His Single submitter ⚠
- p.Arg419Ser Single submitter ⚠
- p.Arg436His Single submitter ⚠
- p.Arg463Ser Single submitter ⚠
- p.Arg475Cys Single submitter
- p.Arg525Cys Single submitter ⚠
- p.Arg546Cys Single submitter ⚠
- p.Asp203Val Single submitter ⚠
- p.Asp21Glu Single submitter ⚠
- p.Asp243Asn Single submitter ⚠
- p.Glu134Lys Single submitter ⚠
- p.Glu250Asp Single submitter ⚠
- p.Gly497Arg Single submitter ⚠
- p.Leu283Phe Single submitter ⚠
- p.Leu555Val Single submitter ⚠
- p.Lys268Arg Single submitter ⚠
- p.Phe262Ser Single submitter ⚠
- p.Pro226Ala Single submitter ⚠
- p.Pro467Thr Single submitter ⚠
- p.Pro538Thr Single submitter ⚠
- p.Pro560Ala Single submitter ⚠
- p.Pro625Ala Single submitter ⚠
- p.Ser6Thr Single submitter ⚠
- p.Thr461Pro Single submitter ⚠
- p.Thr481Ile Single submitter
- p.Val338Ile Single submitter ⚠