CFAP95 — 6 ClinVar variants
All ClinVar germline CFAP95 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
2 Benign · 1 Likely benign · 3 Uncertain significance
Full CFAP95 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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.
Predictors split 1
The independent predictors disagree with each other — read with care.
All CFAP95 variants
Benign 2
- c.381-6T>C Multiple submitters
- p.Ser122= Multiple submitters
Likely benign 1
- p.Ser157= Single submitter
Uncertain significance 3
- p.Arg80Gln Single submitter ⚠
- p.His169Arg Single submitter ⚠
- p.Tyr156Cys Single submitter ⚠