COXFA4L2 — 5 ClinVar variants
All ClinVar germline COXFA4L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
5 Uncertain significance
Full COXFA4L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 1
The independent predictors disagree with each other — read with care.
All COXFA4L2 variants
Uncertain significance 5
- p.Arg61Cys Single submitter ⚠
- p.Arg61His Single submitter ⚠
- p.Leu39Val Single submitter ⚠
- p.Leu80Pro Single submitter ⚠
- p.Pro58Ser Single submitter ⚠