ACOT11 — 91 ClinVar variants
All ClinVar germline ACOT11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
5 Benign · 1 Likely benign · 85 Uncertain significance
Full ACOT11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 86
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOT11 p.Ala29Val Uncertain significance Multiple submitters
- ACOT11 p.Ala130Val Uncertain significance Single submitter
- ACOT11 p.Ala354Thr Uncertain significance Single submitter
- ACOT11 p.Ala492Val Uncertain significance Single submitter
- ACOT11 p.Arg11Gln Uncertain significance Single submitter
- ACOT11 p.Arg11Leu Uncertain significance Single submitter
- ACOT11 p.Arg166Gln Uncertain significance Single submitter
- ACOT11 p.Arg181Gln Uncertain significance Single submitter
- ACOT11 p.Arg181Trp Uncertain significance Single submitter
- ACOT11 p.Arg182His Uncertain significance Single submitter
- ACOT11 p.Arg211Cys Uncertain significance Single submitter
- ACOT11 p.Arg23Trp Uncertain significance Single submitter
- ACOT11 p.Arg28Cys Uncertain significance Single submitter
- ACOT11 p.Arg306His Uncertain significance Single submitter
- ACOT11 p.Arg339Gln Uncertain significance Single submitter
- ACOT11 p.Arg348Gln Uncertain significance Single submitter
- ACOT11 p.Arg42Gln Uncertain significance Single submitter
- ACOT11 p.Asn197Lys Uncertain significance Single submitter
- ACOT11 p.Asp280Asn Uncertain significance Single submitter
- ACOT11 p.Asp32Asn Uncertain significance Single submitter
- ACOT11 p.Asp95Gly Uncertain significance Single submitter
- ACOT11 p.Cys209Arg Uncertain significance Single submitter
- ACOT11 p.Gln277Arg Uncertain significance Single submitter
- ACOT11 p.Gln384Glu Uncertain significance Single submitter
- ACOT11 p.Gly240Ser Uncertain significance Single submitter
- ACOT11 p.Gly279Ser Uncertain significance Single submitter
- ACOT11 p.Gly38Ser Uncertain significance Single submitter
- ACOT11 p.Leu227Pro Uncertain significance Single submitter
- ACOT11 p.Leu479Phe Uncertain significance Single submitter
- ACOT11 p.Leu508Pro Uncertain significance Single submitter
- ACOT11 p.Leu54Pro Uncertain significance Single submitter
- ACOT11 p.Lys396Thr Uncertain significance Single submitter
- ACOT11 p.Met123Ile Uncertain significance Single submitter
- ACOT11 p.Met397Ile Uncertain significance Single submitter
- ACOT11 p.Met428Val Uncertain significance Single submitter
- ACOT11 p.Phe488Leu Uncertain significance Single submitter
- ACOT11 p.Pro214Leu Uncertain significance Single submitter
- ACOT11 p.Ser318Arg Uncertain significance Single submitter
- ACOT11 p.Ser353Asn Uncertain significance Single submitter
- ACOT11 p.Ser382Asn Uncertain significance Single submitter
- ACOT11 p.Ser382Thr Uncertain significance Single submitter
- ACOT11 p.Ser458Arg Uncertain significance Single submitter
- ACOT11 p.Ser510Pro Uncertain significance Single submitter
- ACOT11 p.Tyr187Cys Uncertain significance Single submitter
- ACOT11 p.Val108Gly Uncertain significance Single submitter
- ACOT11 p.Val186Ile Uncertain significance Single submitter
- ACOT11 p.Val489Gly Uncertain significance Single submitter
- ACOT11 p.Val489Leu Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- ACOT11 p.Ala215Asp Uncertain significance Single submitter
- ACOT11 p.Ala253Val Uncertain significance Single submitter
- ACOT11 p.Ala304Thr Uncertain significance Single submitter
- ACOT11 p.Ala328Thr Uncertain significance Single submitter
- ACOT11 p.Ala507Val Uncertain significance Single submitter
- ACOT11 p.Arg256Gln Uncertain significance Single submitter
- ACOT11 p.Arg259Cys Uncertain significance Single submitter
- ACOT11 p.Arg281Cys Uncertain significance Single submitter
- ACOT11 p.Arg306Cys Uncertain significance Single submitter
- ACOT11 p.Arg314His Uncertain significance Single submitter
- ACOT11 p.Arg339Pro Uncertain significance Single submitter
- ACOT11 p.Arg347Gln Uncertain significance Single submitter
- ACOT11 p.Arg347Trp Uncertain significance Single submitter
- ACOT11 p.Arg359Leu Uncertain significance Single submitter
- ACOT11 p.Arg42Trp Uncertain significance Single submitter
- ACOT11 p.Arg447Cys Uncertain significance Single submitter
- ACOT11 p.Arg447His Uncertain significance Single submitter
- ACOT11 p.Arg457Trp Uncertain significance Single submitter
- ACOT11 p.Arg524His Uncertain significance Single submitter
- ACOT11 p.Arg61Cys Uncertain significance Single submitter
- ACOT11 p.Cys529Arg Uncertain significance Single submitter
- ACOT11 p.Gln51Leu Uncertain significance Single submitter
- ACOT11 p.Glu460Asp Uncertain significance Single submitter
- ACOT11 p.Gly343Ser Uncertain significance Single submitter
- ACOT11 p.His230Tyr Uncertain significance Single submitter
- ACOT11 p.His455Pro Uncertain significance Single submitter
- ACOT11 p.Met246Val Uncertain significance Single submitter
- ACOT11 p.Pro275Leu Uncertain significance Single submitter
- ACOT11 p.Pro378Leu Uncertain significance Single submitter
- ACOT11 p.Ser388Arg Uncertain significance Single submitter
- ACOT11 p.Ser408Leu Likely benign Single submitter
- ACOT11 p.Ser444Leu Uncertain significance Single submitter
- ACOT11 p.Ser493Thr Uncertain significance Single submitter
- ACOT11 p.Thr164Met Uncertain significance Single submitter
- ACOT11 p.Thr417Ala Uncertain significance Single submitter
- ACOT11 p.Thr519Met Uncertain significance Single submitter
- ACOT11 p.Thr76Met Uncertain significance Single submitter
- ACOT11 p.Val489Met Uncertain significance Single submitter
All ACOT11 variants
Benign 5
- c.1629+9G>A Multiple submitters
- c.884+6G>T Multiple submitters
- p.Ile506= Multiple submitters
- p.Val53= Multiple submitters
- c.1629+2689A>G Single submitter
Likely benign 1
- p.Ser408Leu Single submitter ⚠
Uncertain significance 85
- p.Ala29Val Multiple submitters ⚠
- p.Ala130Val Single submitter ⚠
- p.Ala215Asp Single submitter ⚠
- p.Ala253Val Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Ala328Thr Single submitter ⚠
- p.Ala354Thr Single submitter ⚠
- p.Ala492Val Single submitter ⚠
- p.Ala507Val Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg11Leu Single submitter ⚠
- p.Arg166Gln Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg181Trp Single submitter ⚠
- p.Arg182His Single submitter ⚠
- p.Arg211Cys Single submitter ⚠
- p.Arg23Trp Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg259Cys Single submitter ⚠
- p.Arg281Cys Single submitter ⚠
- p.Arg28Cys Single submitter ⚠
- p.Arg306Cys Single submitter ⚠
- p.Arg306His Single submitter ⚠
- p.Arg314His Single submitter ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg339Pro Single submitter ⚠
- p.Arg347Gln Single submitter ⚠
- p.Arg347Trp Single submitter ⚠
- p.Arg348Gln Single submitter ⚠
- p.Arg359Leu Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg42Trp Single submitter ⚠
- p.Arg447Cys Single submitter ⚠
- p.Arg447His Single submitter ⚠
- p.Arg457Trp Single submitter ⚠
- p.Arg524His Single submitter ⚠
- p.Arg61Cys Single submitter ⚠
- p.Asn197Lys Single submitter ⚠
- p.Asp280Asn Single submitter ⚠
- p.Asp32Asn Single submitter ⚠
- p.Asp95Gly Single submitter ⚠
- p.Cys209Arg Single submitter ⚠
- p.Cys529Arg Single submitter ⚠
- p.Gln277Arg Single submitter ⚠
- p.Gln384Glu Single submitter ⚠
- p.Gln51Leu Single submitter ⚠
- p.Glu460Asp Single submitter ⚠
- p.Gly240Ser Single submitter ⚠
- p.Gly279Ser Single submitter ⚠
- p.Gly343Ser Single submitter ⚠
- p.Gly38Ser Single submitter ⚠
- p.His230Tyr Single submitter ⚠
- p.His455Pro Single submitter ⚠
- p.Leu227Pro Single submitter ⚠
- p.Leu479Phe Single submitter ⚠
- p.Leu508Pro Single submitter ⚠
- p.Leu54Pro Single submitter ⚠
- p.Lys396Thr Single submitter ⚠
- p.Met123Ile Single submitter ⚠
- p.Met246Val Single submitter ⚠
- p.Met397Ile Single submitter ⚠
- p.Met428Val Single submitter ⚠
- p.Phe488Leu Single submitter ⚠
- p.Pro214Leu Single submitter ⚠
- p.Pro275Leu Single submitter ⚠
- p.Pro378Leu Single submitter ⚠
- p.Ser318Arg Single submitter ⚠
- p.Ser353Asn Single submitter ⚠
- p.Ser382Asn Single submitter ⚠
- p.Ser382Thr Single submitter ⚠
- p.Ser388Arg Single submitter ⚠
- p.Ser444Leu Single submitter ⚠
- p.Ser458Arg Single submitter ⚠
- p.Ser493Thr Single submitter ⚠
- p.Ser510Pro Single submitter ⚠
- p.Thr164Met Single submitter ⚠
- p.Thr417Ala Single submitter ⚠
- p.Thr519Met Single submitter ⚠
- p.Thr76Met Single submitter ⚠
- p.Tyr187Cys Single submitter ⚠
- p.Val108Gly Single submitter ⚠
- p.Val186Ile Single submitter ⚠
- p.Val489Gly Single submitter ⚠
- p.Val489Leu Single submitter ⚠
- p.Val489Met Single submitter ⚠