COA4 — 11 ClinVar variants
All ClinVar germline COA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
11 Uncertain significance
Full COA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 8
The independent predictors disagree with each other — read with care.
- COA4 p.Ala70Val Uncertain significance Single submitter
- COA4 p.Arg31His Uncertain significance Single submitter
- COA4 p.Arg52Gln Uncertain significance Single submitter
- COA4 p.Glu20Lys Uncertain significance Single submitter
- COA4 p.Leu76Pro Uncertain significance Single submitter
- COA4 p.Ser30Phe Uncertain significance Single submitter
- COA4 p.Ser4Leu Uncertain significance Single submitter
- COA4 p.Val41Met Uncertain significance Single submitter
All COA4 variants
Uncertain significance 11
- p.Ala70Val Single submitter ⚠
- p.Arg31His Single submitter ⚠
- p.Arg52Gln Single submitter ⚠
- p.Asp19Glu Single submitter ⚠
- p.Gln7Arg Single submitter ⚠
- p.Glu20Lys Single submitter ⚠
- p.Leu76Pro Single submitter ⚠
- p.Ser30Phe Single submitter ⚠
- p.Ser4Leu Single submitter ⚠
- p.Val41Ala Single submitter ⚠
- p.Val41Met Single submitter ⚠