CFAP299 — 6 ClinVar variants
All ClinVar germline CFAP299 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
3 Likely benign · 3 Uncertain significance
Full CFAP299 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All CFAP299 variants
Likely benign 3
- p.Glu4Asp Single submitter
- p.Pro174= Single submitter
- p.Thr96Met Single submitter
Uncertain significance 3
- c.333+25162G>C Single submitter
- p.His227Gln Single submitter ⚠
- p.Thr84Ser Single submitter ⚠