ACOT13 — 23 ClinVar variants
All ClinVar germline ACOT13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
23 Uncertain significance
Full ACOT13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOT13 p.Ala114Glu Uncertain significance Single submitter
- ACOT13 p.Arg9Gln Uncertain significance Single submitter
- ACOT13 p.Asn122Ser Uncertain significance Single submitter
- ACOT13 p.Gly57Ser Uncertain significance Single submitter
- ACOT13 p.Gly78Glu Uncertain significance Single submitter
- ACOT13 p.Gly81Arg Uncertain significance Single submitter
- ACOT13 p.Ile100Thr Uncertain significance Single submitter
- ACOT13 p.Ile129Val Uncertain significance Single submitter
- ACOT13 p.Ile67Arg Uncertain significance Single submitter
- ACOT13 p.Ile67Val Uncertain significance Single submitter
- ACOT13 p.Leu59Trp Uncertain significance Single submitter
- ACOT13 p.Leu59Val Uncertain significance Single submitter
- ACOT13 p.Lys136Glu Uncertain significance Single submitter
- ACOT13 p.Met86Thr Uncertain significance Single submitter
- ACOT13 p.Thr5Ile Uncertain significance Single submitter
- ACOT13 p.Val82Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- ACOT13 p.Ile100Met Uncertain significance Single submitter
- ACOT13 p.Leu30Phe Uncertain significance Single submitter
- ACOT13 p.Met15Ile Uncertain significance Single submitter
- ACOT13 p.Met15Thr Uncertain significance Single submitter
- ACOT13 p.Ser117Tyr Uncertain significance Single submitter
- ACOT13 p.Thr62Met Uncertain significance Single submitter
- ACOT13 p.Val106Leu Uncertain significance Single submitter
All ACOT13 variants
Uncertain significance 23
- p.Ala114Glu Single submitter ⚠
- p.Arg9Gln Single submitter ⚠
- p.Asn122Ser Single submitter ⚠
- p.Gly57Ser Single submitter ⚠
- p.Gly78Glu Single submitter ⚠
- p.Gly81Arg Single submitter ⚠
- p.Ile100Met Single submitter ⚠
- p.Ile100Thr Single submitter ⚠
- p.Ile129Val Single submitter ⚠
- p.Ile67Arg Single submitter ⚠
- p.Ile67Val Single submitter ⚠
- p.Leu30Phe Single submitter ⚠
- p.Leu59Trp Single submitter ⚠
- p.Leu59Val Single submitter ⚠
- p.Lys136Glu Single submitter ⚠
- p.Met15Ile Single submitter ⚠
- p.Met15Thr Single submitter ⚠
- p.Met86Thr Single submitter ⚠
- p.Ser117Tyr Single submitter ⚠
- p.Thr5Ile Single submitter ⚠
- p.Thr62Met Single submitter ⚠
- p.Val106Leu Single submitter ⚠
- p.Val82Leu Single submitter ⚠