ACOT4 — 79 ClinVar variants
All ClinVar germline ACOT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
1 Benign · 2 Likely benign · 76 Uncertain significance
Full ACOT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOT4 p.Ala235Gly Uncertain significance Single submitter
- ACOT4 p.Ala65Thr Uncertain significance Single submitter
- ACOT4 p.Ala65Val Uncertain significance Single submitter
- ACOT4 p.Ala73Val Uncertain significance Single submitter
- ACOT4 p.Arg136Gly Uncertain significance Single submitter
- ACOT4 p.Arg174Gly Uncertain significance Single submitter
- ACOT4 p.Arg92Ser Uncertain significance Single submitter
- ACOT4 p.Asn198Ser Uncertain significance Single submitter
- ACOT4 p.Asn199Thr Uncertain significance Single submitter
- ACOT4 p.Asn247Asp Uncertain significance Single submitter
- ACOT4 p.Cys213Tyr Uncertain significance Single submitter
- ACOT4 p.Gln122His Uncertain significance Single submitter
- ACOT4 p.Gly165Val Uncertain significance Single submitter
- ACOT4 p.Gly346Arg Uncertain significance Single submitter
- ACOT4 p.Gly58Asp Uncertain significance Single submitter
- ACOT4 p.Gly70Cys Uncertain significance Single submitter
- ACOT4 p.His181Arg Uncertain significance Single submitter
- ACOT4 p.His181Tyr Uncertain significance Single submitter
- ACOT4 p.His327Arg Uncertain significance Single submitter
- ACOT4 p.Ile383Val Uncertain significance Single submitter
- ACOT4 p.Leu148Pro Uncertain significance Single submitter
- ACOT4 p.Leu26Pro Uncertain significance Single submitter
- ACOT4 p.Lys222Arg Uncertain significance Single submitter
- ACOT4 p.Phe208Leu Uncertain significance Single submitter
- ACOT4 p.Phe405Ser Uncertain significance Single submitter
- ACOT4 p.Pro151Arg Uncertain significance Single submitter
- ACOT4 p.Ser260Ile Uncertain significance Single submitter
- ACOT4 p.Thr413Ala Uncertain significance Single submitter
- ACOT4 p.Thr4Lys Uncertain significance Single submitter
- ACOT4 p.Val19Glu Uncertain significance Single submitter
- ACOT4 p.Val19Leu Uncertain significance Single submitter
- ACOT4 p.Val248Ala Uncertain significance Single submitter
- ACOT4 p.Val300Ile Uncertain significance Single submitter
-
ACOT4 p.Ala189Asp
Uncertain significance
No assertion criteria
intellectual disability
Predictors split 41
The independent predictors disagree with each other — read with care.
- ACOT4 p.Ala235Thr Uncertain significance Single submitter
- ACOT4 p.Ala242Ser Uncertain significance Single submitter
- ACOT4 p.Ala242Val Uncertain significance Single submitter
- ACOT4 p.Ala372Gly Uncertain significance Single submitter
- ACOT4 p.Ala48Thr Uncertain significance Single submitter
- ACOT4 p.Arg143Pro Uncertain significance Single submitter
- ACOT4 p.Arg145Cys Uncertain significance Single submitter
- ACOT4 p.Arg174Gln Uncertain significance Single submitter
- ACOT4 p.Arg389Ser Uncertain significance Single submitter
- ACOT4 p.Arg51Ser Uncertain significance Single submitter
- ACOT4 p.Arg57His Uncertain significance Single submitter
- ACOT4 p.Arg96Pro Uncertain significance Single submitter
- ACOT4 p.Asn16Lys Uncertain significance Single submitter
- ACOT4 p.Asn255Ser Uncertain significance Single submitter
- ACOT4 p.Asn297Tyr Uncertain significance Single submitter
- ACOT4 p.Cys121Tyr Uncertain significance Single submitter
- ACOT4 p.Gln30Arg Uncertain significance Single submitter
- ACOT4 p.Gln324Pro Uncertain significance Single submitter
- ACOT4 p.Glu107Lys Uncertain significance Single submitter
- ACOT4 p.Gly225Asp Uncertain significance Single submitter
- ACOT4 p.Gly323Ala Uncertain significance Single submitter
- ACOT4 p.Gly357Glu Uncertain significance Single submitter
- ACOT4 p.Ile166Phe Uncertain significance Single submitter
- ACOT4 p.Leu68Val Uncertain significance Single submitter
- ACOT4 p.Leu7Pro Uncertain significance Single submitter
- ACOT4 p.Lys393Glu Uncertain significance Single submitter
- ACOT4 p.Met78Val Uncertain significance Single submitter
- ACOT4 p.Phe102Ser Uncertain significance Single submitter
- ACOT4 p.Phe367Leu Uncertain significance Single submitter
- ACOT4 p.Phe405Val Uncertain significance Single submitter
- ACOT4 p.Pro18Leu Uncertain significance Single submitter
- ACOT4 p.Pro77Leu Uncertain significance Single submitter
- ACOT4 p.Pro89Thr Uncertain significance Single submitter
- ACOT4 p.Ser176Thr Uncertain significance Single submitter
- ACOT4 p.Thr147Ala Uncertain significance Single submitter
- ACOT4 p.Thr185Met Uncertain significance Single submitter
- ACOT4 p.Thr33Met Uncertain significance Single submitter
- ACOT4 p.Tyr214His Uncertain significance Single submitter
- ACOT4 p.Val23Met Uncertain significance Single submitter
- ACOT4 p.Val32Leu Uncertain significance Single submitter
-
ACOT4 p.Tyr190Cys
Uncertain significance
No assertion criteria
intellectual disability
All ACOT4 variants
Benign 1
- p.Ala187Asp Single submitter
Likely benign 2
- p.Tyr303Cys Single submitter
- p.Val248Ile Single submitter
Uncertain significance 76
- p.Ala235Gly Single submitter ⚠
- p.Ala235Thr Single submitter ⚠
- p.Ala242Ser Single submitter ⚠
- p.Ala242Val Single submitter ⚠
- p.Ala372Gly Single submitter ⚠
- p.Ala48Thr Single submitter ⚠
- p.Ala65Thr Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Ala73Val Single submitter ⚠
- p.Arg136Gly Single submitter ⚠
- p.Arg143Pro Single submitter ⚠
- p.Arg145Cys Single submitter ⚠
- p.Arg174Gln Single submitter ⚠
- p.Arg174Gly Single submitter ⚠
- p.Arg389Ser Single submitter ⚠
- p.Arg51Ser Single submitter ⚠
- p.Arg57His Single submitter ⚠
- p.Arg92Ser Single submitter ⚠
- p.Arg96Pro Single submitter ⚠
- p.Asn16Lys Single submitter ⚠
- p.Asn198Ser Single submitter ⚠
- p.Asn199Thr Single submitter ⚠
- p.Asn247Asp Single submitter ⚠
- p.Asn255Ser Single submitter ⚠
- p.Asn297Tyr Single submitter ⚠
- p.Cys121Tyr Single submitter ⚠
- p.Cys213Tyr Single submitter ⚠
- p.Gln122His Single submitter ⚠
- p.Gln30Arg Single submitter ⚠
- p.Gln324Pro Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Gly165Val Single submitter ⚠
- p.Gly225Asp Single submitter ⚠
- p.Gly323Ala Single submitter ⚠
- p.Gly346Arg Single submitter ⚠
- p.Gly357Glu Single submitter ⚠
- p.Gly58Asp Single submitter ⚠
- p.Gly70Cys Single submitter ⚠
- p.His181Arg Single submitter ⚠
- p.His181Tyr Single submitter ⚠
- p.His327Arg Single submitter ⚠
- p.Ile166Phe Single submitter ⚠
- p.Ile383Val Single submitter ⚠
- p.Leu148Pro Single submitter ⚠
- p.Leu26Pro Single submitter ⚠
- p.Leu68Val Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Lys222Arg Single submitter ⚠
- p.Lys393Glu Single submitter ⚠
- p.Met78Val Single submitter ⚠
- p.Phe102Ser Single submitter ⚠
- p.Phe208Leu Single submitter ⚠
- p.Phe367Leu Single submitter ⚠
- p.Phe405Ser Single submitter ⚠
- p.Phe405Val Single submitter ⚠
- p.Pro151Arg Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro77Leu Single submitter ⚠
- p.Pro89Thr Single submitter ⚠
- p.Ser176Thr Single submitter ⚠
- p.Ser260Ile Single submitter ⚠
- p.Thr147Ala Single submitter ⚠
- p.Thr185Met Single submitter ⚠
- p.Thr33Met Single submitter ⚠
- p.Thr413Ala Single submitter ⚠
- p.Thr4Lys Single submitter ⚠
- p.Tyr214His Single submitter ⚠
- p.Val19Glu Single submitter ⚠
- p.Val19Leu Single submitter ⚠
- p.Val23Met Single submitter ⚠
- p.Val248Ala Single submitter ⚠
- p.Val300Ile Single submitter ⚠
- p.Val32Leu Single submitter ⚠
- p.Ala189= No assertion criteria intellectual disability
- p.Ala189Asp No assertion criteria intellectual disability ⚠
- p.Tyr190Cys No assertion criteria intellectual disability ⚠