CFAP144 — 16 ClinVar variants
All ClinVar germline CFAP144 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Conflicting · 1 Benign · 2 Likely benign · 12 Uncertain significance
Full CFAP144 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP144 p.Arg104Cys Uncertain significance Single submitter
- CFAP144 p.Asp130Gly Uncertain significance Single submitter
- CFAP144 p.Asp57Gly Uncertain significance Single submitter
- CFAP144 p.Glu60Gly Uncertain significance Single submitter
- CFAP144 p.Gly129Val Uncertain significance Single submitter
- CFAP144 p.His56Tyr Uncertain significance Single submitter
- CFAP144 p.Lys26Arg Uncertain significance Single submitter
- CFAP144 p.Phe67Leu Uncertain significance Single submitter
- CFAP144 p.Val114Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CFAP144 variants
Conflicting classifications of pathogenicity 1
- p.Ile100Val Single submitter ⚠
Benign 1
- p.Leu120fs Single submitter
Likely benign 2
- p.Gly127Ser Single submitter
- p.Thr125Met Single submitter
Uncertain significance 12
- p.Arg104Cys Single submitter ⚠
- p.Asp130Gly Single submitter ⚠
- p.Asp57Gly Single submitter ⚠
- p.Asp64Asn Single submitter ⚠
- p.Glu60Gly Single submitter ⚠
- p.Gly129Val Single submitter ⚠
- p.His56Tyr Single submitter ⚠
- p.Lys26Arg Single submitter ⚠
- p.Phe67Leu Single submitter ⚠
- p.Pro102Ala Single submitter ⚠
- p.Val114Ile Single submitter ⚠
- p.Trp126Ter No assertion criteria