ACAP1 — 100 ClinVar variants
All ClinVar germline ACAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
1 Likely benign · 99 Uncertain significance
Full ACAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACAP1 p.Val407Ala Uncertain significance Multiple submitters
- ACAP1 p.Ala418Asp Uncertain significance Single submitter
- ACAP1 p.Ala54Thr Uncertain significance Single submitter
- ACAP1 p.Ala58Asp Uncertain significance Single submitter
- ACAP1 p.Ala596Thr Uncertain significance Single submitter
- ACAP1 p.Ala636Glu Uncertain significance Single submitter
- ACAP1 p.Ala636Val Uncertain significance Single submitter
- ACAP1 p.Ala656Ser Uncertain significance Single submitter
- ACAP1 p.Ala67Val Uncertain significance Single submitter
- ACAP1 p.Arg118Gln Uncertain significance Single submitter
- ACAP1 p.Arg118Gly Uncertain significance Single submitter
- ACAP1 p.Arg124His Uncertain significance Single submitter
- ACAP1 p.Arg125Gln Uncertain significance Single submitter
- ACAP1 p.Arg147Cys Uncertain significance Single submitter
- ACAP1 p.Arg148Gln Uncertain significance Single submitter
- ACAP1 p.Arg163Gln Uncertain significance Single submitter
- ACAP1 p.Arg16His Uncertain significance Single submitter
- ACAP1 p.Arg194His Uncertain significance Single submitter
- ACAP1 p.Arg313Cys Uncertain significance Single submitter
- ACAP1 p.Arg367Cys Uncertain significance Single submitter
- ACAP1 p.Arg373Trp Uncertain significance Single submitter
- ACAP1 p.Arg424Gln Uncertain significance Single submitter
- ACAP1 p.Arg458Gln Uncertain significance Single submitter
- ACAP1 p.Arg488Cys Uncertain significance Single submitter
- ACAP1 p.Arg50His Uncertain significance Single submitter
- ACAP1 p.Arg527Gln Uncertain significance Single submitter
- ACAP1 p.Arg529Gly Uncertain significance Single submitter
- ACAP1 p.Arg551Pro Uncertain significance Single submitter
- ACAP1 p.Asp237Asn Uncertain significance Single submitter
- ACAP1 p.Asp597Glu Uncertain significance Single submitter
- ACAP1 p.Asp736His Uncertain significance Single submitter
- ACAP1 p.Gln377Lys Uncertain significance Single submitter
- ACAP1 p.Glu254Lys Uncertain significance Single submitter
- ACAP1 p.Glu27Lys Uncertain significance Single submitter
- ACAP1 p.Glu507Asp Uncertain significance Single submitter
- ACAP1 p.Glu624Lys Uncertain significance Single submitter
- ACAP1 p.Glu682Gln Uncertain significance Single submitter
- ACAP1 p.Glu701Asp Uncertain significance Single submitter
- ACAP1 p.Glu73Val Uncertain significance Single submitter
- ACAP1 p.Gly221Ala Uncertain significance Single submitter
- ACAP1 p.Gly402Ala Uncertain significance Single submitter
- ACAP1 p.Gly402Val Uncertain significance Single submitter
- ACAP1 p.Gly405Arg Uncertain significance Single submitter
- ACAP1 p.Gly436Cys Uncertain significance Single submitter
- ACAP1 p.Gly445Ser Uncertain significance Single submitter
- ACAP1 p.Gly532Asp Uncertain significance Single submitter
- ACAP1 p.Gly604Asp Uncertain significance Single submitter
- ACAP1 p.Gly604Ser Uncertain significance Single submitter
- ACAP1 p.Gly62Ser Uncertain significance Single submitter
- ACAP1 p.Gly630Arg Uncertain significance Single submitter
- ACAP1 p.His242Tyr Uncertain significance Single submitter
- ACAP1 p.His581Tyr Uncertain significance Single submitter
- ACAP1 p.His89Tyr Uncertain significance Single submitter
- ACAP1 p.Leu319Pro Uncertain significance Single submitter
- ACAP1 p.Leu38Val Uncertain significance Single submitter
- ACAP1 p.Leu575Gln Uncertain significance Single submitter
- ACAP1 p.Leu5Val Uncertain significance Single submitter
- ACAP1 p.Leu666Val Uncertain significance Single submitter
- ACAP1 p.Leu97Phe Uncertain significance Single submitter
- ACAP1 p.Pro550Ser Uncertain significance Single submitter
- ACAP1 p.Pro571Ser Uncertain significance Single submitter
- ACAP1 p.Pro583Ser Uncertain significance Single submitter
- ACAP1 p.Pro610Leu Uncertain significance Single submitter
- ACAP1 p.Pro676Ala Uncertain significance Single submitter
- ACAP1 p.Pro72Leu Uncertain significance Single submitter
- ACAP1 p.Ser211Arg Uncertain significance Single submitter
- ACAP1 p.Ser358Cys Uncertain significance Single submitter
- ACAP1 p.Ser563Thr Uncertain significance Single submitter
- ACAP1 p.Thr111Ala Uncertain significance Single submitter
- ACAP1 p.Thr2Ala Uncertain significance Single submitter
- ACAP1 p.Thr2Ser Uncertain significance Single submitter
- ACAP1 p.Thr306Asn Uncertain significance Single submitter
- ACAP1 p.Thr461Ile Uncertain significance Single submitter
- ACAP1 p.Thr678Ala Uncertain significance Single submitter
- ACAP1 p.Val113Ile Uncertain significance Single submitter
- ACAP1 p.Val404Leu Uncertain significance Single submitter
- ACAP1 p.Val479Asp Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ACAP1 p.Ala137Thr Uncertain significance Single submitter
- ACAP1 p.Arg121Gly Uncertain significance Single submitter
- ACAP1 p.Arg124Ser Uncertain significance Single submitter
- ACAP1 p.Arg125Leu Uncertain significance Single submitter
- ACAP1 p.Arg50Cys Uncertain significance Single submitter
- ACAP1 p.Arg551Trp Uncertain significance Single submitter
- ACAP1 p.Arg57His Uncertain significance Single submitter
- ACAP1 p.Arg732Leu Uncertain significance Single submitter
- ACAP1 p.Asn278Ser Uncertain significance Single submitter
- ACAP1 p.Ile63Thr Uncertain significance Single submitter
- ACAP1 p.Lys518Met Uncertain significance Single submitter
- ACAP1 p.Met76Ile Uncertain significance Single submitter
- ACAP1 p.Met76Thr Uncertain significance Single submitter
- ACAP1 p.Phe454Leu Uncertain significance Single submitter
- ACAP1 p.Pro540His Uncertain significance Single submitter
- ACAP1 p.Ser20Phe Uncertain significance Single submitter
- ACAP1 p.Val307Met Uncertain significance Single submitter
- ACAP1 p.Val407Met Uncertain significance Single submitter
All ACAP1 variants
Likely benign 1
- p.Arg367His Single submitter
Uncertain significance 99
- p.Val407Ala Multiple submitters ⚠
- p.Ala137Thr Single submitter ⚠
- p.Ala418Asp Single submitter ⚠
- p.Ala54Thr Single submitter ⚠
- p.Ala58Asp Single submitter ⚠
- p.Ala596Thr Single submitter ⚠
- p.Ala636Glu Single submitter ⚠
- p.Ala636Val Single submitter ⚠
- p.Ala656Ser Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg118Gly Single submitter ⚠
- p.Arg121Gly Single submitter ⚠
- p.Arg124His Single submitter ⚠
- p.Arg124Ser Single submitter ⚠
- p.Arg125Gln Single submitter ⚠
- p.Arg125Leu Single submitter ⚠
- p.Arg147Cys Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg163Gln Single submitter ⚠
- p.Arg16His Single submitter ⚠
- p.Arg194His Single submitter ⚠
- p.Arg313Cys Single submitter ⚠
- p.Arg367Cys Single submitter ⚠
- p.Arg373Trp Single submitter ⚠
- p.Arg424Gln Single submitter ⚠
- p.Arg458Gln Single submitter ⚠
- p.Arg488Cys Single submitter ⚠
- p.Arg50Cys Single submitter ⚠
- p.Arg50His Single submitter ⚠
- p.Arg527Gln Single submitter ⚠
- p.Arg529Gly Single submitter ⚠
- p.Arg551Pro Single submitter ⚠
- p.Arg551Trp Single submitter ⚠
- p.Arg57His Single submitter ⚠
- p.Arg732Leu Single submitter ⚠
- p.Asn278Ser Single submitter ⚠
- p.Asp237Asn Single submitter ⚠
- p.Asp597Glu Single submitter ⚠
- p.Asp736His Single submitter ⚠
- p.Cys474Ser Single submitter
- p.Gln377Lys Single submitter ⚠
- p.Glu254Lys Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Glu507Asp Single submitter ⚠
- p.Glu624Lys Single submitter ⚠
- p.Glu682Gln Single submitter ⚠
- p.Glu699Lys Single submitter
- p.Glu701Asp Single submitter ⚠
- p.Glu73Val Single submitter ⚠
- p.Gly221Ala Single submitter ⚠
- p.Gly402Ala Single submitter ⚠
- p.Gly402Val Single submitter ⚠
- p.Gly405Arg Single submitter ⚠
- p.Gly436Cys Single submitter ⚠
- p.Gly445Ser Single submitter ⚠
- p.Gly532Asp Single submitter ⚠
- p.Gly604Asp Single submitter ⚠
- p.Gly604Ser Single submitter ⚠
- p.Gly62Ser Single submitter ⚠
- p.Gly630Arg Single submitter ⚠
- p.His242Tyr Single submitter ⚠
- p.His581Tyr Single submitter ⚠
- p.His89Tyr Single submitter ⚠
- p.Ile63Thr Single submitter ⚠
- p.Leu319Pro Single submitter ⚠
- p.Leu38Val Single submitter ⚠
- p.Leu575Gln Single submitter ⚠
- p.Leu5Val Single submitter ⚠
- p.Leu666Val Single submitter ⚠
- p.Leu97Phe Single submitter ⚠
- p.Lys518Met Single submitter ⚠
- p.Met76Ile Single submitter ⚠
- p.Met76Thr Single submitter ⚠
- p.Phe454Leu Single submitter ⚠
- p.Pro540His Single submitter ⚠
- p.Pro550Ser Single submitter ⚠
- p.Pro571Ser Single submitter ⚠
- p.Pro583Ser Single submitter ⚠
- p.Pro610Leu Single submitter ⚠
- p.Pro676Ala Single submitter ⚠
- p.Pro72Leu Single submitter ⚠
- p.Ser20Phe Single submitter ⚠
- p.Ser211Arg Single submitter ⚠
- p.Ser358Cys Single submitter ⚠
- p.Ser563Thr Single submitter ⚠
- p.Thr111Ala Single submitter ⚠
- p.Thr2Ala Single submitter ⚠
- p.Thr2Ser Single submitter ⚠
- p.Thr306Asn Single submitter ⚠
- p.Thr461Ile Single submitter ⚠
- p.Thr678Ala Single submitter ⚠
- p.Val113Ile Single submitter ⚠
- p.Val228Phe Single submitter
- p.Val307Met Single submitter ⚠
- p.Val404Leu Single submitter ⚠
- p.Val407Glu Single submitter
- p.Val407Met Single submitter ⚠
- p.Val479Asp Single submitter ⚠