ACOT8 — 46 ClinVar variants
All ClinVar germline ACOT8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
3 Likely benign · 43 Uncertain significance
Full ACOT8 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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOT8 p.Ala280Asp Uncertain significance Single submitter
- ACOT8 p.Arg177Gln Uncertain significance Single submitter
- ACOT8 p.Arg24Ser Uncertain significance Single submitter
- ACOT8 p.Asp268Asn Uncertain significance Single submitter
- ACOT8 p.Cys82Tyr Uncertain significance Single submitter
- ACOT8 p.Gln11His Uncertain significance Single submitter
- ACOT8 p.Gln168Glu Uncertain significance Single submitter
- ACOT8 p.Gln181Arg Uncertain significance Single submitter
- ACOT8 p.Gln58Leu Uncertain significance Single submitter
- ACOT8 p.Glu8Ala Uncertain significance Single submitter
- ACOT8 p.Gly213Val Uncertain significance Single submitter
- ACOT8 p.His250Tyr Uncertain significance Single submitter
- ACOT8 p.His78Arg Uncertain significance Single submitter
- ACOT8 p.Ile123Thr Uncertain significance Single submitter
- ACOT8 p.Ile230Val Uncertain significance Single submitter
- ACOT8 p.Leu272Phe Uncertain significance Single submitter
- ACOT8 p.Pro19Leu Uncertain significance Single submitter
- ACOT8 p.Pro19Ser Uncertain significance Single submitter
- ACOT8 p.Pro90Ser Uncertain significance Single submitter
- ACOT8 p.Ser196Arg Uncertain significance Single submitter
- ACOT8 p.Ser79Cys Uncertain significance Single submitter
- ACOT8 p.Trp279Arg Uncertain significance Single submitter
- ACOT8 p.Tyr214Cys Uncertain significance Single submitter
- ACOT8 p.Val115Met Uncertain significance Single submitter
- ACOT8 p.Val75Ile Uncertain significance Single submitter
- ACOT8 p.Val94Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ACOT8 p.Ala263Thr Uncertain significance Single submitter
- ACOT8 p.Ala267Gly Uncertain significance Single submitter
- ACOT8 p.Ala267Val Uncertain significance Single submitter
- ACOT8 p.Arg100Gln Uncertain significance Single submitter
- ACOT8 p.Arg102Gln Uncertain significance Single submitter
- ACOT8 p.Arg110His Uncertain significance Single submitter
- ACOT8 p.Arg212Gln Uncertain significance Single submitter
- ACOT8 p.Arg24Cys Uncertain significance Single submitter
- ACOT8 p.Arg266Gln Uncertain significance Single submitter
- ACOT8 p.Ile158Met Uncertain significance Single submitter
- ACOT8 p.Leu319Val Uncertain significance Single submitter
- ACOT8 p.Pro135Thr Uncertain significance Single submitter
- ACOT8 p.Pro165Ser Uncertain significance Single submitter
- ACOT8 p.Pro189Leu Likely benign Single submitter
- ACOT8 p.Pro192Thr Uncertain significance Single submitter
- ACOT8 p.Pro312Ala Uncertain significance Single submitter
- ACOT8 p.Ser111Phe Uncertain significance Single submitter
- ACOT8 p.Val77Met Uncertain significance Single submitter
All ACOT8 variants
Likely benign 3
- p.Ala51Thr Single submitter
- p.Pro189Leu Single submitter ⚠
- p.Thr30Ser Single submitter
Uncertain significance 43
- p.Ala263Thr Single submitter ⚠
- p.Ala267Gly Single submitter ⚠
- p.Ala267Val Single submitter ⚠
- p.Ala280Asp Single submitter ⚠
- p.Arg100Gln Single submitter ⚠
- p.Arg102Gln Single submitter ⚠
- p.Arg110His Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg212Gln Single submitter ⚠
- p.Arg24Cys Single submitter ⚠
- p.Arg24Ser Single submitter ⚠
- p.Arg266Gln Single submitter ⚠
- p.Asp268Asn Single submitter ⚠
- p.Cys82Tyr Single submitter ⚠
- p.Gln11His Single submitter ⚠
- p.Gln168Glu Single submitter ⚠
- p.Gln181Arg Single submitter ⚠
- p.Gln58Leu Single submitter ⚠
- p.Glu8Ala Single submitter ⚠
- p.Gly213Val Single submitter ⚠
- p.His250Tyr Single submitter ⚠
- p.His78Arg Single submitter ⚠
- p.Ile123Thr Single submitter ⚠
- p.Ile158Met Single submitter ⚠
- p.Ile230Val Single submitter ⚠
- p.Leu272Phe Single submitter ⚠
- p.Leu319Val Single submitter ⚠
- p.Pro135Thr Single submitter ⚠
- p.Pro165Ser Single submitter ⚠
- p.Pro192Thr Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro19Ser Single submitter ⚠
- p.Pro312Ala Single submitter ⚠
- p.Pro90Ser Single submitter ⚠
- p.Ser111Phe Single submitter ⚠
- p.Ser196Arg Single submitter ⚠
- p.Ser79Cys Single submitter ⚠
- p.Trp279Arg Single submitter ⚠
- p.Tyr214Cys Single submitter ⚠
- p.Val115Met Single submitter ⚠
- p.Val75Ile Single submitter ⚠
- p.Val77Met Single submitter ⚠
- p.Val94Ile Single submitter ⚠