AP3S1 — 12 ClinVar variants
All ClinVar germline AP3S1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Benign · 11 Uncertain significance
Full AP3S1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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.
- AP3S1 p.Asn48Ser Uncertain significance Single submitter
- AP3S1 p.Asp142Glu Uncertain significance Single submitter
- AP3S1 p.Leu6Pro Uncertain significance Single submitter
- AP3S1 p.Phe73Ser Uncertain significance Single submitter
- AP3S1 p.Ser59Thr Uncertain significance Single submitter
- AP3S1 p.Thr27Ala Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All AP3S1 variants
Benign 1
- p.Pro158Leu Single submitter ⚠
Uncertain significance 11
- p.Asn48Ser Single submitter ⚠
- p.Asp142Glu Single submitter ⚠
- p.Gln21Lys Single submitter ⚠
- p.Ile141Met Single submitter ⚠
- p.Leu6Pro Single submitter ⚠
- p.Lys115Gln Single submitter
- p.Phe73Ser Single submitter ⚠
- p.Pro171Thr Single submitter ⚠
- p.Ser24Ile Single submitter
- p.Ser59Thr Single submitter ⚠
- p.Thr27Ala Single submitter ⚠