ACAP2 — 46 ClinVar variants
All ClinVar germline ACAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Likely benign · 45 Uncertain significance
Full ACAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACAP2 p.Arg226Gln Uncertain significance Single submitter
- ACAP2 p.Arg287His Uncertain significance Single submitter
- ACAP2 p.Arg404Gln Uncertain significance Single submitter
- ACAP2 p.Arg755His Uncertain significance Single submitter
- ACAP2 p.Asn265His Uncertain significance Single submitter
- ACAP2 p.Asn265Ser Uncertain significance Single submitter
- ACAP2 p.Asn389Lys Uncertain significance Single submitter
- ACAP2 p.Asn763Ser Uncertain significance Single submitter
- ACAP2 p.Asp571Val Uncertain significance Single submitter
- ACAP2 p.Asp73Gly Uncertain significance Single submitter
- ACAP2 p.Gln342Pro Uncertain significance Single submitter
- ACAP2 p.Glu658Gly Uncertain significance Single submitter
- ACAP2 p.Gly266Ala Uncertain significance Single submitter
- ACAP2 p.Gly697Asp Uncertain significance Single submitter
- ACAP2 p.His603Tyr Uncertain significance Single submitter
- ACAP2 p.Ile291Met Uncertain significance Single submitter
- ACAP2 p.Ile43Thr Uncertain significance Single submitter
- ACAP2 p.Ile440Met Uncertain significance Single submitter
- ACAP2 p.Ile63Val Uncertain significance Single submitter
- ACAP2 p.Lys373Arg Uncertain significance Single submitter
- ACAP2 p.Lys528Thr Uncertain significance Single submitter
- ACAP2 p.Met467Thr Uncertain significance Single submitter
- ACAP2 p.Phe544Ser Uncertain significance Single submitter
- ACAP2 p.Pro522Thr Uncertain significance Single submitter
- ACAP2 p.Ser252Ile Uncertain significance Single submitter
- ACAP2 p.Ser601Leu Uncertain significance Single submitter
- ACAP2 p.Val174Gly Uncertain significance Single submitter
- ACAP2 p.Val268Ile Uncertain significance Single submitter
- ACAP2 p.Val683Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- ACAP2 p.Arg167Gln Uncertain significance Single submitter
- ACAP2 p.Asn668Ser Uncertain significance Single submitter
- ACAP2 p.Asn732Ser Uncertain significance Single submitter
- ACAP2 p.Asp262Glu Uncertain significance Single submitter
- ACAP2 p.Gln357Glu Uncertain significance Single submitter
- ACAP2 p.Glu77Val Uncertain significance Single submitter
- ACAP2 p.His199Arg Uncertain significance Single submitter
- ACAP2 p.Leu209Met Uncertain significance Single submitter
- ACAP2 p.Pro620Ser Uncertain significance Single submitter
- ACAP2 p.Ser595Phe Uncertain significance Single submitter
- ACAP2 p.Ser595Tyr Uncertain significance Single submitter
- ACAP2 p.Ser596Phe Uncertain significance Single submitter
- ACAP2 p.Thr579Met Uncertain significance Single submitter
- ACAP2 p.Val5Leu Uncertain significance Single submitter
- ACAP2 p.Val632Met Uncertain significance Single submitter
- ACAP2 p.Val76Ile Uncertain significance Single submitter
All ACAP2 variants
Likely benign 1
- p.Asp27= Single submitter
Uncertain significance 45
- p.Arg167Gln Single submitter ⚠
- p.Arg226Gln Single submitter ⚠
- p.Arg287His Single submitter ⚠
- p.Arg404Gln Single submitter ⚠
- p.Arg755His Single submitter ⚠
- p.Asn265His Single submitter ⚠
- p.Asn265Ser Single submitter ⚠
- p.Asn389Lys Single submitter ⚠
- p.Asn668Ser Single submitter ⚠
- p.Asn732Ser Single submitter ⚠
- p.Asn763Ser Single submitter ⚠
- p.Asp262Glu Single submitter ⚠
- p.Asp571Val Single submitter ⚠
- p.Asp73Gly Single submitter ⚠
- p.Gln342Pro Single submitter ⚠
- p.Gln357Glu Single submitter ⚠
- p.Glu658Gly Single submitter ⚠
- p.Glu77Val Single submitter ⚠
- p.Gly266Ala Single submitter ⚠
- p.Gly697Asp Single submitter ⚠
- p.His199Arg Single submitter ⚠
- p.His603Tyr Single submitter ⚠
- p.Ile291Met Single submitter ⚠
- p.Ile43Thr Single submitter ⚠
- p.Ile440Met Single submitter ⚠
- p.Ile63Val Single submitter ⚠
- p.Leu209Met Single submitter ⚠
- p.Lys373Arg Single submitter ⚠
- p.Lys528Thr Single submitter ⚠
- p.Met467Thr Single submitter ⚠
- p.Phe544Ser Single submitter ⚠
- p.Pro522Thr Single submitter ⚠
- p.Pro620Ser Single submitter ⚠
- p.Ser252Ile Single submitter ⚠
- p.Ser595Phe Single submitter ⚠
- p.Ser595Tyr Single submitter ⚠
- p.Ser596Phe Single submitter ⚠
- p.Ser601Leu Single submitter ⚠
- p.Thr579Met Single submitter ⚠
- p.Val174Gly Single submitter ⚠
- p.Val268Ile Single submitter ⚠
- p.Val5Leu Single submitter ⚠
- p.Val632Met Single submitter ⚠
- p.Val683Ile Single submitter ⚠
- p.Val76Ile Single submitter ⚠