AP3S2 — 22 ClinVar variants
All ClinVar germline AP3S2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
22 Uncertain significance
Full AP3S2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AP3S2 p.Ala157Val Uncertain significance Single submitter
- AP3S2 p.Ala69Val Uncertain significance Single submitter
- AP3S2 p.Arg175Gln Uncertain significance Single submitter
- AP3S2 p.Arg66Gln Uncertain significance Single submitter
- AP3S2 p.Glu151Lys Uncertain significance Single submitter
- AP3S2 p.Leu71Val Uncertain significance Single submitter
- AP3S2 p.Leu87Ser Uncertain significance Single submitter
- AP3S2 p.Met113Val Uncertain significance Single submitter
- AP3S2 p.Ser79Phe Uncertain significance Single submitter
- AP3S2 p.Val124Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- AP3S2 p.Ala143Val Uncertain significance Single submitter
- AP3S2 p.Arg18His Uncertain significance Single submitter
- AP3S2 p.Arg33Gly Uncertain significance Single submitter
- AP3S2 p.Asn178His Uncertain significance Single submitter
- AP3S2 p.Asp60Glu Uncertain significance Single submitter
- AP3S2 p.Gln140His Uncertain significance Single submitter
- AP3S2 p.Glu102Lys Uncertain significance Single submitter
- AP3S2 p.Glu34Asp Uncertain significance Single submitter
- AP3S2 p.Ile56Thr Uncertain significance Single submitter
- AP3S2 p.Ile5Val Uncertain significance Single submitter
- AP3S2 p.Met125Val Uncertain significance Single submitter
- AP3S2 p.Phe23Ser Uncertain significance Single submitter
All AP3S2 variants
Uncertain significance 22
- p.Ala143Val Single submitter ⚠
- p.Ala157Val Single submitter ⚠
- p.Ala69Val Single submitter ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg33Gly Single submitter ⚠
- p.Arg66Gln Single submitter ⚠
- p.Asn178His Single submitter ⚠
- p.Asp60Glu Single submitter ⚠
- p.Gln140His Single submitter ⚠
- p.Glu102Lys Single submitter ⚠
- p.Glu151Lys Single submitter ⚠
- p.Glu34Asp Single submitter ⚠
- p.Ile56Thr Single submitter ⚠
- p.Ile5Val Single submitter ⚠
- p.Leu71Val Single submitter ⚠
- p.Leu87Ser Single submitter ⚠
- p.Met113Val Single submitter ⚠
- p.Met125Val Single submitter ⚠
- p.Phe23Ser Single submitter ⚠
- p.Ser79Phe Single submitter ⚠
- p.Val124Met Single submitter ⚠