ACOT2 — 108 ClinVar variants
All ClinVar germline ACOT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
1 Benign · 11 Likely benign · 96 Uncertain significance
Full ACOT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOT2 p.Arg158Leu Uncertain significance Single submitter
- ACOT2 p.Arg16Gly Uncertain significance Single submitter
- ACOT2 p.Arg180Gln Uncertain significance Single submitter
- ACOT2 p.Asn390Ser Uncertain significance Single submitter
- ACOT2 p.Asp177Gly Uncertain significance Single submitter
- ACOT2 p.Glu199Gln Uncertain significance Single submitter
- ACOT2 p.Glu332Lys Uncertain significance Single submitter
- ACOT2 p.Gly120Ala Uncertain significance Single submitter
- ACOT2 p.Gly227Arg Uncertain significance Single submitter
- ACOT2 p.Gly231Ser Uncertain significance Single submitter
- ACOT2 p.Gly289Arg Uncertain significance Single submitter
- ACOT2 p.Gly292Arg Uncertain significance Single submitter
- ACOT2 p.His111Arg Uncertain significance Single submitter
- ACOT2 p.His9Tyr Uncertain significance Single submitter
- ACOT2 p.Ile310Val Uncertain significance Single submitter
- ACOT2 p.Ile479Val Uncertain significance Single submitter
- ACOT2 p.Leu122Arg Uncertain significance Single submitter
- ACOT2 p.Leu210Arg Uncertain significance Single submitter
- ACOT2 p.Leu307Pro Uncertain significance Single submitter
- ACOT2 p.Leu88Pro Uncertain significance Single submitter
- ACOT2 p.Met140Ile Uncertain significance Single submitter
- ACOT2 p.Met455Val Uncertain significance Single submitter
- ACOT2 p.Pro214Gln Uncertain significance Single submitter
- ACOT2 p.Pro8Ala Uncertain significance Single submitter
- ACOT2 p.Ser12Leu Uncertain significance Single submitter
- ACOT2 p.Ser133Arg Uncertain significance Single submitter
- ACOT2 p.Ser133Ile Uncertain significance Single submitter
- ACOT2 p.Ser23Leu Uncertain significance Single submitter
- ACOT2 p.Ser24Cys Uncertain significance Single submitter
- ACOT2 p.Ser279Gly Uncertain significance Single submitter
- ACOT2 p.Ser31Phe Uncertain significance Single submitter
- ACOT2 p.Ser442Ile Uncertain significance Single submitter
- ACOT2 p.Trp144Cys Uncertain significance Single submitter
- ACOT2 p.Trp36Arg Uncertain significance Single submitter
- ACOT2 p.Val14Gly Uncertain significance Single submitter
- ACOT2 p.Val160Leu Uncertain significance Single submitter
- ACOT2 p.Val247Leu Uncertain significance Single submitter
- ACOT2 p.Val323Ala Uncertain significance Single submitter
- ACOT2 p.Val53Phe Uncertain significance Single submitter
- ACOT2 p.Val59Leu Uncertain significance Single submitter
- ACOT2 p.Val81Leu Uncertain significance Single submitter
Predictors split 57
The independent predictors disagree with each other — read with care.
- ACOT2 p.Ala116Thr Uncertain significance Single submitter
- ACOT2 p.Ala145Val Uncertain significance Single submitter
- ACOT2 p.Ala304Val Uncertain significance Single submitter
- ACOT2 p.Ala452Thr Uncertain significance Single submitter
- ACOT2 p.Ala452Val Uncertain significance Single submitter
- ACOT2 p.Arg186Pro Uncertain significance Single submitter
- ACOT2 p.Arg202Leu Uncertain significance Single submitter
- ACOT2 p.Arg205Trp Uncertain significance Single submitter
- ACOT2 p.Arg236Trp Uncertain significance Single submitter
- ACOT2 p.Arg433Trp Uncertain significance Single submitter
- ACOT2 p.Arg58Trp Uncertain significance Single submitter
- ACOT2 p.Asn322Ser Uncertain significance Single submitter
- ACOT2 p.Asp117Gly Uncertain significance Single submitter
- ACOT2 p.Gln184Pro Uncertain significance Single submitter
- ACOT2 p.Gln463Glu Uncertain significance Single submitter
- ACOT2 p.Gln463Pro Uncertain significance Single submitter
- ACOT2 p.Glu138Asp Uncertain significance Single submitter
- ACOT2 p.Glu149Asp Uncertain significance Single submitter
- ACOT2 p.Gly173Ser Uncertain significance Single submitter
- ACOT2 p.Gly195Arg Uncertain significance Single submitter
- ACOT2 p.Gly287Glu Uncertain significance Single submitter
- ACOT2 p.Gly324Arg Uncertain significance Single submitter
- ACOT2 p.Gly474Asp Uncertain significance Single submitter
- ACOT2 p.Gly73Asp Uncertain significance Single submitter
- ACOT2 p.His407Gln Uncertain significance Single submitter
- ACOT2 p.His475Tyr Uncertain significance Single submitter
- ACOT2 p.Ile445Thr Uncertain significance Single submitter
- ACOT2 p.Leu143Pro Uncertain significance Single submitter
- ACOT2 p.Leu152Val Uncertain significance Single submitter
- ACOT2 p.Leu168Met Uncertain significance Single submitter
- ACOT2 p.Leu239Val Uncertain significance Single submitter
- ACOT2 p.Leu267Met Uncertain significance Single submitter
- ACOT2 p.Leu431Pro Uncertain significance Single submitter
- ACOT2 p.Met140Thr Uncertain significance Single submitter
- ACOT2 p.Met21Ile Uncertain significance Single submitter
- ACOT2 p.Met225Lys Uncertain significance Single submitter
- ACOT2 p.Met262Arg Uncertain significance Single submitter
- ACOT2 p.Phe429Leu Uncertain significance Single submitter
- ACOT2 p.Pro163Leu Uncertain significance Single submitter
- ACOT2 p.Pro163Ser Uncertain significance Single submitter
- ACOT2 p.Pro193Leu Uncertain significance Single submitter
- ACOT2 p.Pro194Arg Uncertain significance Single submitter
- ACOT2 p.Pro194Leu Uncertain significance Single submitter
- ACOT2 p.Pro216Leu Uncertain significance Single submitter
- ACOT2 p.Pro336Ala Uncertain significance Single submitter
- ACOT2 p.Pro361Leu Uncertain significance Single submitter
- ACOT2 p.Ser279Asn Likely benign Single submitter
- ACOT2 p.Thr185Arg Uncertain significance Single submitter
- ACOT2 p.Thr185Met Likely benign Single submitter
- ACOT2 p.Thr209Met Uncertain significance Single submitter
- ACOT2 p.Thr264Met Uncertain significance Single submitter
- ACOT2 p.Thr326Ile Uncertain significance Single submitter
- ACOT2 p.Tyr253Cys Uncertain significance Single submitter
- ACOT2 p.Tyr276His Uncertain significance Single submitter
- ACOT2 p.Val81Gly Uncertain significance Single submitter
- ACOT2 p.Val85Gly Uncertain significance Single submitter
- ACOT2 p.Val85Met Uncertain significance Single submitter
All ACOT2 variants
Benign 1
- p.His328Arg Multiple submitters
Likely benign 11
- p.Gln184Arg Single submitter
- p.Gln55Arg Single submitter
- p.Glu476Lys Single submitter
- p.Gly221= Single submitter
- p.His187Gln Single submitter
- p.Met274Val Single submitter
- p.Ser279Asn Single submitter ⚠
- p.Thr185Ala Single submitter
- p.Thr185Met Single submitter ⚠
- p.Val153Leu Single submitter
- p.Val346Met Single submitter
Uncertain significance 96
- p.Ala116Thr Single submitter ⚠
- p.Ala145Val Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala452Thr Single submitter ⚠
- p.Ala452Val Single submitter ⚠
- p.Arg158Leu Single submitter ⚠
- p.Arg16Gly Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg186Pro Single submitter ⚠
- p.Arg202Leu Single submitter ⚠
- p.Arg205Trp Single submitter ⚠
- p.Arg236Trp Single submitter ⚠
- p.Arg433Trp Single submitter ⚠
- p.Arg58Trp Single submitter ⚠
- p.Asn322Ser Single submitter ⚠
- p.Asn390Ser Single submitter ⚠
- p.Asp117Gly Single submitter ⚠
- p.Asp177Gly Single submitter ⚠
- p.Gln184Pro Single submitter ⚠
- p.Gln463Glu Single submitter ⚠
- p.Gln463Pro Single submitter ⚠
- p.Glu138Asp Single submitter ⚠
- p.Glu149Asp Single submitter ⚠
- p.Glu199Gln Single submitter ⚠
- p.Glu332Lys Single submitter ⚠
- p.Gly120Ala Single submitter ⚠
- p.Gly173Ser Single submitter ⚠
- p.Gly195Arg Single submitter ⚠
- p.Gly227Arg Single submitter ⚠
- p.Gly231Ser Single submitter ⚠
- p.Gly287Glu Single submitter ⚠
- p.Gly289Arg Single submitter ⚠
- p.Gly292Arg Single submitter ⚠
- p.Gly324Arg Single submitter ⚠
- p.Gly474Asp Single submitter ⚠
- p.Gly73Asp Single submitter ⚠
- p.His111Arg Single submitter ⚠
- p.His407Gln Single submitter ⚠
- p.His475Tyr Single submitter ⚠
- p.His9Tyr Single submitter ⚠
- p.Ile310Val Single submitter ⚠
- p.Ile445Thr Single submitter ⚠
- p.Ile479Val Single submitter ⚠
- p.Leu122Arg Single submitter ⚠
- p.Leu143Pro Single submitter ⚠
- p.Leu152Val Single submitter ⚠
- p.Leu168Met Single submitter ⚠
- p.Leu210Arg Single submitter ⚠
- p.Leu239Val Single submitter ⚠
- p.Leu267Met Single submitter ⚠
- p.Leu307Pro Single submitter ⚠
- p.Leu431Pro Single submitter ⚠
- p.Leu88Pro Single submitter ⚠
- p.Met140Ile Single submitter ⚠
- p.Met140Thr Single submitter ⚠
- p.Met21Ile Single submitter ⚠
- p.Met225Lys Single submitter ⚠
- p.Met262Arg Single submitter ⚠
- p.Met455Val Single submitter ⚠
- p.Phe429Leu Single submitter ⚠
- p.Pro163Leu Single submitter ⚠
- p.Pro163Ser Single submitter ⚠
- p.Pro193Leu Single submitter ⚠
- p.Pro194Arg Single submitter ⚠
- p.Pro194Leu Single submitter ⚠
- p.Pro214Gln Single submitter ⚠
- p.Pro216Leu Single submitter ⚠
- p.Pro336Ala Single submitter ⚠
- p.Pro361Leu Single submitter ⚠
- p.Pro8Ala Single submitter ⚠
- p.Ser12Leu Single submitter ⚠
- p.Ser133Arg Single submitter ⚠
- p.Ser133Ile Single submitter ⚠
- p.Ser23Leu Single submitter ⚠
- p.Ser24Cys Single submitter ⚠
- p.Ser279Gly Single submitter ⚠
- p.Ser31Phe Single submitter ⚠
- p.Ser442Ile Single submitter ⚠
- p.Thr185Arg Single submitter ⚠
- p.Thr209Met Single submitter ⚠
- p.Thr264Met Single submitter ⚠
- p.Thr326Ile Single submitter ⚠
- p.Trp144Cys Single submitter ⚠
- p.Trp36Arg Single submitter ⚠
- p.Tyr253Cys Single submitter ⚠
- p.Tyr276His Single submitter ⚠
- p.Val14Gly Single submitter ⚠
- p.Val160Leu Single submitter ⚠
- p.Val247Leu Single submitter ⚠
- p.Val323Ala Single submitter ⚠
- p.Val53Phe Single submitter ⚠
- p.Val59Leu Single submitter ⚠
- p.Val81Gly Single submitter ⚠
- p.Val81Leu Single submitter ⚠
- p.Val85Gly Single submitter ⚠
- p.Val85Met Single submitter ⚠