AP5S1 — 45 ClinVar variants
All ClinVar germline AP5S1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
2 Likely benign · 43 Uncertain significance
Full AP5S1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AP5S1 p.Arg74Gln Uncertain significance Multiple submitters
- AP5S1 p.Ala101Glu Uncertain significance Single submitter
- AP5S1 p.Ala102Thr Uncertain significance Single submitter
- AP5S1 p.Ala102Val Uncertain significance Single submitter
- AP5S1 p.Ala128Gly Uncertain significance Single submitter
- AP5S1 p.Ala154Val Uncertain significance Single submitter
- AP5S1 p.Arg151Gln Uncertain significance Single submitter
- AP5S1 p.Arg151Trp Uncertain significance Single submitter
- AP5S1 p.Arg162Trp Uncertain significance Single submitter
- AP5S1 p.Arg22Gln Uncertain significance Single submitter
- AP5S1 p.Arg39Trp Uncertain significance Single submitter
- AP5S1 p.Arg50Trp Uncertain significance Single submitter
- AP5S1 p.Arg66Trp Uncertain significance Single submitter
- AP5S1 p.Arg95Cys Uncertain significance Single submitter
- AP5S1 p.Arg99His Uncertain significance Single submitter
- AP5S1 p.Glu16Lys Uncertain significance Single submitter
- AP5S1 p.Gly168Ser Uncertain significance Single submitter
- AP5S1 p.Gly189Val Uncertain significance Single submitter
- AP5S1 p.Gly30Asp Uncertain significance Single submitter
- AP5S1 p.Gly42Ser Uncertain significance Single submitter
- AP5S1 p.His129Asp Uncertain significance Single submitter
- AP5S1 p.His149Arg Uncertain significance Single submitter
- AP5S1 p.His176Arg Uncertain significance Single submitter
- AP5S1 p.Leu141Arg Uncertain significance Single submitter
- AP5S1 p.Leu147Phe Uncertain significance Single submitter
- AP5S1 p.Met64Val Uncertain significance Single submitter
- AP5S1 p.Met77Ile Uncertain significance Single submitter
- AP5S1 p.Met77Val Uncertain significance Single submitter
- AP5S1 p.Pro105Ser Uncertain significance Single submitter
- AP5S1 p.Pro81Ser Uncertain significance Single submitter
- AP5S1 p.Pro89Leu Uncertain significance Single submitter
- AP5S1 p.Ser195Gly Uncertain significance Single submitter
- AP5S1 p.Thr111Lys Uncertain significance Single submitter
- AP5S1 p.Thr18Met Uncertain significance Single submitter
- AP5S1 p.Val2Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- AP5S1 p.Arg110Trp Uncertain significance Single submitter
- AP5S1 p.Arg140Trp Uncertain significance Single submitter
- AP5S1 p.Arg74Trp Uncertain significance Single submitter
- AP5S1 p.Cys21Tyr Uncertain significance Single submitter
- AP5S1 p.Pro175Ser Uncertain significance Single submitter
- AP5S1 p.Pro94Arg Uncertain significance Single submitter
- AP5S1 p.Val125Met Uncertain significance Single submitter
All AP5S1 variants
Likely benign 2
- p.Arg95His Single submitter
- p.Pro81= Single submitter
Uncertain significance 43
- p.Arg74Gln Multiple submitters ⚠
- p.Ala101Glu Single submitter ⚠
- p.Ala102Thr Single submitter ⚠
- p.Ala102Val Single submitter ⚠
- p.Ala128Gly Single submitter ⚠
- p.Ala154Val Single submitter ⚠
- p.Arg110Trp Single submitter ⚠
- p.Arg140Trp Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg151Trp Single submitter ⚠
- p.Arg162Trp Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Arg50Trp Single submitter ⚠
- p.Arg66Trp Single submitter ⚠
- p.Arg74Trp Single submitter ⚠
- p.Arg95Cys Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Cys21Tyr Single submitter ⚠
- p.Glu16Lys Single submitter ⚠
- p.Gly168Ser Single submitter ⚠
- p.Gly189Val Single submitter ⚠
- p.Gly30Asp Single submitter ⚠
- p.Gly42Ser Single submitter ⚠
- p.His129Asp Single submitter ⚠
- p.His149Arg Single submitter ⚠
- p.His176Arg Single submitter ⚠
- p.Leu141Arg Single submitter ⚠
- p.Leu147Phe Single submitter ⚠
- p.Met64Val Single submitter ⚠
- p.Met77Ile Single submitter ⚠
- p.Met77Val Single submitter ⚠
- p.Pro105Ser Single submitter ⚠
- p.Pro175Ser Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Pro89Leu Single submitter ⚠
- p.Pro94Arg Single submitter ⚠
- p.Ser195Gly Single submitter ⚠
- p.Ser26Tyr Single submitter
- p.Thr111Lys Single submitter ⚠
- p.Thr18Met Single submitter ⚠
- p.Val125Met Single submitter ⚠
- p.Val2Ile Single submitter ⚠