ACER1 — 51 ClinVar variants
All ClinVar germline ACER1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Benign · 6 Likely benign · 44 Uncertain significance
Full ACER1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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.
- ACER1 p.Ala143Thr Uncertain significance Single submitter
- ACER1 p.Ala145Gly Uncertain significance Single submitter
- ACER1 p.Ala181Pro Uncertain significance Single submitter
- ACER1 p.Ala225Thr Uncertain significance Single submitter
- ACER1 p.Arg117Ser Uncertain significance Single submitter
- ACER1 p.Arg122Leu Uncertain significance Single submitter
- ACER1 p.Arg138Trp Uncertain significance Single submitter
- ACER1 p.Arg191Pro Uncertain significance Single submitter
- ACER1 p.Arg199Lys Uncertain significance Single submitter
- ACER1 p.Arg245Gln Uncertain significance Single submitter
- ACER1 p.Asn18Lys Uncertain significance Single submitter
- ACER1 p.Asn230Ile Uncertain significance Single submitter
- ACER1 p.Asn30Asp Uncertain significance Single submitter
- ACER1 p.Cys15Tyr Uncertain significance Single submitter
- ACER1 p.Glu27Lys Uncertain significance Single submitter
- ACER1 p.Gly84Asp Uncertain significance Single submitter
- ACER1 p.Gly97Ser Uncertain significance Single submitter
- ACER1 p.Ile153Thr Uncertain significance Single submitter
- ACER1 p.Ile156Met Uncertain significance Single submitter
- ACER1 p.Ile39Val Uncertain significance Single submitter
- ACER1 p.Ile92Asn Uncertain significance Single submitter
- ACER1 p.Leu47Val Uncertain significance Single submitter
- ACER1 p.Leu87Pro Uncertain significance Single submitter
- ACER1 p.Met221Val Uncertain significance Single submitter
- ACER1 p.Met48Leu Uncertain significance Single submitter
- ACER1 p.Phe37Ser Uncertain significance Single submitter
- ACER1 p.Pro253Leu Uncertain significance Single submitter
- ACER1 p.Ser9Asn Uncertain significance Single submitter
- ACER1 p.Thr79Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- ACER1 p.Arg106Cys Uncertain significance Single submitter
- ACER1 p.Arg122His Uncertain significance Single submitter
- ACER1 p.Arg170Trp Uncertain significance Single submitter
- ACER1 p.Arg191Cys Uncertain significance Single submitter
- ACER1 p.Arg258Trp Uncertain significance Single submitter
- ACER1 p.Arg55Cys Uncertain significance Single submitter
- ACER1 p.Arg57Cys Uncertain significance Single submitter
- ACER1 p.Gly114Ala Uncertain significance Single submitter
- ACER1 p.Gly115Arg Uncertain significance Single submitter
- ACER1 p.Lys239Glu Uncertain significance Single submitter
- ACER1 p.Ser22Trp Uncertain significance Single submitter
- ACER1 p.Tyr100Cys Uncertain significance Single submitter
- ACER1 p.Tyr204Cys Uncertain significance Single submitter
- ACER1 p.Tyr21Cys Uncertain significance Single submitter
- ACER1 p.Tyr21Ser Uncertain significance Single submitter
All ACER1 variants
Benign 1
- p.Val182Ile Single submitter
Likely benign 6
- p.Met221Ile Multiple submitters
- p.Asn116Ser Single submitter
- p.Cys158Phe Single submitter
- p.Phe203Ser Single submitter
- p.Tyr60= Single submitter
- p.Val61Ile Single submitter
Uncertain significance 44
- p.Ala143Thr Single submitter ⚠
- p.Ala145Gly Single submitter ⚠
- p.Ala181Pro Single submitter ⚠
- p.Ala225Thr Single submitter ⚠
- p.Arg106Cys Single submitter ⚠
- p.Arg117Ser Single submitter ⚠
- p.Arg122His Single submitter ⚠
- p.Arg122Leu Single submitter ⚠
- p.Arg138Trp Single submitter ⚠
- p.Arg170Trp Single submitter ⚠
- p.Arg191Cys Single submitter ⚠
- p.Arg191Pro Single submitter ⚠
- p.Arg199Lys Single submitter ⚠
- p.Arg245Gln Single submitter ⚠
- p.Arg258Trp Single submitter ⚠
- p.Arg55Cys Single submitter ⚠
- p.Arg57Cys Single submitter ⚠
- p.Asn18Lys Single submitter ⚠
- p.Asn230Ile Single submitter ⚠
- p.Asn30Asp Single submitter ⚠
- p.Cys15Tyr Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Gly114Ala Single submitter ⚠
- p.Gly115Arg Single submitter ⚠
- p.Gly84Asp Single submitter ⚠
- p.Gly97Ser Single submitter ⚠
- p.Ile153Thr Single submitter ⚠
- p.Ile156Met Single submitter ⚠
- p.Ile39Val Single submitter ⚠
- p.Ile92Asn Single submitter ⚠
- p.Leu47Val Single submitter ⚠
- p.Leu87Pro Single submitter ⚠
- p.Lys239Glu Single submitter ⚠
- p.Met221Val Single submitter ⚠
- p.Met48Leu Single submitter ⚠
- p.Phe37Ser Single submitter ⚠
- p.Pro253Leu Single submitter ⚠
- p.Ser22Trp Single submitter ⚠
- p.Ser9Asn Single submitter ⚠
- p.Thr79Met Single submitter ⚠
- p.Tyr100Cys Single submitter ⚠
- p.Tyr204Cys Single submitter ⚠
- p.Tyr21Cys Single submitter ⚠
- p.Tyr21Ser Single submitter ⚠