AP2A2 — 115 ClinVar variants
All ClinVar germline AP2A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
5 Likely benign · 110 Uncertain significance
Full AP2A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AP2A2 p.Ala136Thr Uncertain significance Single submitter
- AP2A2 p.Ala168Thr Uncertain significance Single submitter
- AP2A2 p.Ala304Val Uncertain significance Single submitter
- AP2A2 p.Ala375Thr Uncertain significance Single submitter
- AP2A2 p.Ala3Val Uncertain significance Single submitter
- AP2A2 p.Ala435Val Uncertain significance Single submitter
- AP2A2 p.Ala488Thr Uncertain significance Single submitter
- AP2A2 p.Ala538Val Uncertain significance Single submitter
- AP2A2 p.Ala651Thr Uncertain significance Single submitter
- AP2A2 p.Ala782Val Uncertain significance Single submitter
- AP2A2 p.Ala799Val Uncertain significance Single submitter
- AP2A2 p.Ala833Val Uncertain significance Single submitter
- AP2A2 p.Arg278Leu Uncertain significance Single submitter
- AP2A2 p.Arg632Gln Uncertain significance Single submitter
- AP2A2 p.Arg906Cys Uncertain significance Single submitter
- AP2A2 p.Asn714Ser Uncertain significance Single submitter
- AP2A2 p.Asn853Ser Uncertain significance Single submitter
- AP2A2 p.Asn910His Uncertain significance Single submitter
- AP2A2 p.Asp565Asn Uncertain significance Single submitter
- AP2A2 p.Gln266His Uncertain significance Single submitter
- AP2A2 p.Gln300Arg Uncertain significance Single submitter
- AP2A2 p.Gln521Glu Uncertain significance Single submitter
- AP2A2 p.Gln818Arg Uncertain significance Single submitter
- AP2A2 p.Gly46Asp Uncertain significance Single submitter
- AP2A2 p.Gly679Ser Uncertain significance Single submitter
- AP2A2 p.Gly781Arg Uncertain significance Single submitter
- AP2A2 p.Ile116Thr Uncertain significance Single submitter
- AP2A2 p.Ile30Val Uncertain significance Single submitter
- AP2A2 p.Ile33Met Uncertain significance Single submitter
- AP2A2 p.Ile451Val Uncertain significance Single submitter
- AP2A2 p.Leu262Arg Uncertain significance Single submitter
- AP2A2 p.Leu531Pro Uncertain significance Single submitter
- AP2A2 p.Leu823Val Uncertain significance Single submitter
- AP2A2 p.Lys297Glu Uncertain significance Single submitter
- AP2A2 p.Lys43Glu Uncertain significance Single submitter
- AP2A2 p.Lys631Arg Uncertain significance Single submitter
- AP2A2 p.Lys631Gln Uncertain significance Single submitter
- AP2A2 p.Met77Ile Uncertain significance Single submitter
- AP2A2 p.Phe806Val Uncertain significance Single submitter
- AP2A2 p.Pro293Leu Uncertain significance Single submitter
- AP2A2 p.Pro518Leu Uncertain significance Single submitter
- AP2A2 p.Pro603Gln Uncertain significance Single submitter
- AP2A2 p.Ser140Arg Uncertain significance Single submitter
- AP2A2 p.Ser231Thr Uncertain significance Single submitter
- AP2A2 p.Ser658Leu Uncertain significance Single submitter
- AP2A2 p.Ser691Leu Uncertain significance Single submitter
- AP2A2 p.Thr160Ser Uncertain significance Single submitter
- AP2A2 p.Thr354Met Uncertain significance Single submitter
- AP2A2 p.Thr748Met Uncertain significance Single submitter
- AP2A2 p.Thr777Ile Uncertain significance Single submitter
- AP2A2 p.Thr89Met Uncertain significance Single submitter
- AP2A2 p.Thr919Met Uncertain significance Single submitter
- AP2A2 p.Tyr582Cys Uncertain significance Single submitter
- AP2A2 p.Val252Phe Uncertain significance Single submitter
- AP2A2 p.Val427Leu Uncertain significance Single submitter
- AP2A2 p.Val534Ile Uncertain significance Single submitter
- AP2A2 p.Val685Met Uncertain significance Single submitter
- AP2A2 p.Val927Ile Uncertain significance Single submitter
Predictors split 53
The independent predictors disagree with each other — read with care.
- AP2A2 p.Ala136Ser Uncertain significance Single submitter
- AP2A2 p.Ala274Pro Uncertain significance Single submitter
- AP2A2 p.Ala667Asp Uncertain significance Single submitter
- AP2A2 p.Arg123His Uncertain significance Single submitter
- AP2A2 p.Arg471Gln Uncertain significance Single submitter
- AP2A2 p.Arg563Leu Uncertain significance Single submitter
- AP2A2 p.Asn22Ser Uncertain significance Single submitter
- AP2A2 p.Asn400Ser Likely benign Single submitter
- AP2A2 p.Asp181Asn Uncertain significance Single submitter
- AP2A2 p.Asp437Glu Uncertain significance Single submitter
- AP2A2 p.Gln291Leu Uncertain significance Single submitter
- AP2A2 p.Gln749Glu Uncertain significance Single submitter
- AP2A2 p.Gln749His Uncertain significance Single submitter
- AP2A2 p.Gln843Leu Uncertain significance Single submitter
- AP2A2 p.Glu281Asp Uncertain significance Single submitter
- AP2A2 p.Glu459Gln Uncertain significance Single submitter
- AP2A2 p.Gly673Asp Uncertain significance Single submitter
- AP2A2 p.Gly780Ala Uncertain significance Single submitter
- AP2A2 p.Ile30Leu Uncertain significance Single submitter
- AP2A2 p.Ile317Val Uncertain significance Single submitter
- AP2A2 p.Ile854Val Uncertain significance Single submitter
- AP2A2 p.Ile901Thr Uncertain significance Single submitter
- AP2A2 p.Leu262Met Uncertain significance Single submitter
- AP2A2 p.Leu698Pro Uncertain significance Single submitter
- AP2A2 p.Leu878Ile Uncertain significance Single submitter
- AP2A2 p.Leu920Val Uncertain significance Single submitter
- AP2A2 p.Lys297Arg Uncertain significance Single submitter
- AP2A2 p.Met601Ile Uncertain significance Single submitter
- AP2A2 p.Phe750Tyr Uncertain significance Single submitter
- AP2A2 p.Pro184Leu Uncertain significance Single submitter
- AP2A2 p.Pro2Arg Uncertain significance Single submitter
- AP2A2 p.Pro489Ser Uncertain significance Single submitter
- AP2A2 p.Pro514Leu Uncertain significance Single submitter
- AP2A2 p.Pro605Leu Uncertain significance Single submitter
- AP2A2 p.Pro676Arg Uncertain significance Single submitter
- AP2A2 p.Pro697Leu Uncertain significance Single submitter
- AP2A2 p.Pro700Leu Uncertain significance Single submitter
- AP2A2 p.Pro776Leu Uncertain significance Single submitter
- AP2A2 p.Ser834Cys Uncertain significance Single submitter
- AP2A2 p.Thr248Ala Uncertain significance Single submitter
- AP2A2 p.Thr371Met Uncertain significance Single submitter
- AP2A2 p.Thr625Ile Uncertain significance Single submitter
- AP2A2 p.Thr896Met Uncertain significance Single submitter
- AP2A2 p.Val156Ile Uncertain significance Single submitter
- AP2A2 p.Val226Met Uncertain significance Single submitter
- AP2A2 p.Val230Ile Uncertain significance Single submitter
- AP2A2 p.Val327Ile Uncertain significance Single submitter
- AP2A2 p.Val436Ala Uncertain significance Single submitter
- AP2A2 p.Val573Met Uncertain significance Single submitter
- AP2A2 p.Val588Met Uncertain significance Single submitter
- AP2A2 p.Val59Ile Uncertain significance Single submitter
- AP2A2 p.Val652Leu Uncertain significance Single submitter
- AP2A2 p.Val784Met Uncertain significance Single submitter
All AP2A2 variants
Likely benign 5
- p.Ala538= Single submitter
- p.Ala672Thr Single submitter
- p.Asn400Ser Single submitter ⚠
- p.Gly781= Single submitter
- p.Pro671= Single submitter
Uncertain significance 110
- p.Ala136Ser Single submitter ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala168Thr Single submitter ⚠
- p.Ala274Pro Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala375Thr Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala435Val Single submitter ⚠
- p.Ala488Thr Single submitter ⚠
- p.Ala538Val Single submitter ⚠
- p.Ala651Thr Single submitter ⚠
- p.Ala667Asp Single submitter ⚠
- p.Ala782Val Single submitter ⚠
- p.Ala799Val Single submitter ⚠
- p.Ala833Val Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg278Leu Single submitter ⚠
- p.Arg471Gln Single submitter ⚠
- p.Arg563Leu Single submitter ⚠
- p.Arg632Gln Single submitter ⚠
- p.Arg906Cys Single submitter ⚠
- p.Asn22Ser Single submitter ⚠
- p.Asn714Ser Single submitter ⚠
- p.Asn853Ser Single submitter ⚠
- p.Asn910His Single submitter ⚠
- p.Asp181Asn Single submitter ⚠
- p.Asp437Glu Single submitter ⚠
- p.Asp565Asn Single submitter ⚠
- p.Gln266His Single submitter ⚠
- p.Gln291Leu Single submitter ⚠
- p.Gln300Arg Single submitter ⚠
- p.Gln521Glu Single submitter ⚠
- p.Gln749Glu Single submitter ⚠
- p.Gln749His Single submitter ⚠
- p.Gln818Arg Single submitter ⚠
- p.Gln843Leu Single submitter ⚠
- p.Glu281Asp Single submitter ⚠
- p.Glu459Gln Single submitter ⚠
- p.Gly46Asp Single submitter ⚠
- p.Gly673Asp Single submitter ⚠
- p.Gly679Ser Single submitter ⚠
- p.Gly780Ala Single submitter ⚠
- p.Gly781Arg Single submitter ⚠
- p.Ile116Thr Single submitter ⚠
- p.Ile30Leu Single submitter ⚠
- p.Ile30Val Single submitter ⚠
- p.Ile317Val Single submitter ⚠
- p.Ile33Met Single submitter ⚠
- p.Ile451Val Single submitter ⚠
- p.Ile854Val Single submitter ⚠
- p.Ile901Thr Single submitter ⚠
- p.Leu262Arg Single submitter ⚠
- p.Leu262Met Single submitter ⚠
- p.Leu531Pro Single submitter ⚠
- p.Leu698Pro Single submitter ⚠
- p.Leu823Val Single submitter ⚠
- p.Leu878Ile Single submitter ⚠
- p.Leu920Val Single submitter ⚠
- p.Lys297Arg Single submitter ⚠
- p.Lys297Glu Single submitter ⚠
- p.Lys43Glu Single submitter ⚠
- p.Lys631Arg Single submitter ⚠
- p.Lys631Gln Single submitter ⚠
- p.Met601Ile Single submitter ⚠
- p.Met77Ile Single submitter ⚠
- p.Phe750Tyr Single submitter ⚠
- p.Phe806Val Single submitter ⚠
- p.Pro184Leu Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Pro2Arg Single submitter ⚠
- p.Pro489Ser Single submitter ⚠
- p.Pro514Leu Single submitter ⚠
- p.Pro518Leu Single submitter ⚠
- p.Pro603Gln Single submitter ⚠
- p.Pro605Leu Single submitter ⚠
- p.Pro676Arg Single submitter ⚠
- p.Pro697Leu Single submitter ⚠
- p.Pro700Leu Single submitter ⚠
- p.Pro776Leu Single submitter ⚠
- p.Ser140Arg Single submitter ⚠
- p.Ser231Thr Single submitter ⚠
- p.Ser658Leu Single submitter ⚠
- p.Ser691Leu Single submitter ⚠
- p.Ser834Cys Single submitter ⚠
- p.Thr160Ser Single submitter ⚠
- p.Thr248Ala Single submitter ⚠
- p.Thr354Met Single submitter ⚠
- p.Thr371Met Single submitter ⚠
- p.Thr625Ile Single submitter ⚠
- p.Thr748Met Single submitter ⚠
- p.Thr777Ile Single submitter ⚠
- p.Thr896Met Single submitter ⚠
- p.Thr89Met Single submitter ⚠
- p.Thr919Met Single submitter ⚠
- p.Tyr582Cys Single submitter ⚠
- p.Val156Ile Single submitter ⚠
- p.Val226Met Single submitter ⚠
- p.Val230Ile Single submitter ⚠
- p.Val252Phe Single submitter ⚠
- p.Val327Ile Single submitter ⚠
- p.Val427Leu Single submitter ⚠
- p.Val436Ala Single submitter ⚠
- p.Val534Ile Single submitter ⚠
- p.Val573Met Single submitter ⚠
- p.Val588Met Single submitter ⚠
- p.Val59Ile Single submitter ⚠
- p.Val652Leu Single submitter ⚠
- p.Val685Met Single submitter ⚠
- p.Val784Met Single submitter ⚠
- p.Val927Ile Single submitter ⚠