CFAP96 — 6 ClinVar variants
All ClinVar germline CFAP96 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
1 Likely benign · 5 Uncertain significance
Full CFAP96 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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
All CFAP96 variants
Likely benign 1
- p.Val259fs Single submitter
Uncertain significance 5
- p.Asp171Glu Single submitter ⚠
- p.Asp56Val Single submitter ⚠
- p.Glu285Lys Single submitter ⚠
- p.Ser254Cys Single submitter ⚠
- p.Val306Leu Single submitter ⚠