CFAP73 — 50 ClinVar variants
All ClinVar germline CFAP73 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
4 Likely benign · 46 Uncertain significance
Full CFAP73 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFAP73 p.Ala171Thr Uncertain significance Single submitter
- CFAP73 p.Arg127Gly Uncertain significance Single submitter
- CFAP73 p.Arg135Gly Uncertain significance Single submitter
- CFAP73 p.Asp46Glu Uncertain significance Single submitter
- CFAP73 p.Gln217Arg Uncertain significance Single submitter
- CFAP73 p.Gln266Arg Uncertain significance Single submitter
- CFAP73 p.Gln268Lys Uncertain significance Single submitter
- CFAP73 p.Gln40Arg Uncertain significance Single submitter
- CFAP73 p.Glu26Asp Uncertain significance Single submitter
- CFAP73 p.Glu26Gly Uncertain significance Single submitter
- CFAP73 p.Ile235Val Uncertain significance Single submitter
- CFAP73 p.Leu163Val Uncertain significance Single submitter
- CFAP73 p.Lys233Arg Uncertain significance Single submitter
- CFAP73 p.Phe259Tyr Uncertain significance Single submitter
- CFAP73 p.Thr227Arg Uncertain significance Single submitter
- CFAP73 p.Val284Glu Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- CFAP73 p.Ala103Val Uncertain significance Single submitter
- CFAP73 p.Ala109Gly Uncertain significance Single submitter
- CFAP73 p.Ala150Glu Uncertain significance Single submitter
- CFAP73 p.Ala175Val Uncertain significance Single submitter
- CFAP73 p.Ala186Ser Uncertain significance Single submitter
- CFAP73 p.Ala214Thr Uncertain significance Single submitter
- CFAP73 p.Ala2Val Likely benign Single submitter
- CFAP73 p.Arg106Lys Uncertain significance Single submitter
- CFAP73 p.Arg10Leu Uncertain significance Single submitter
- CFAP73 p.Arg111Gly Uncertain significance Single submitter
- CFAP73 p.Arg145Pro Uncertain significance Single submitter
- CFAP73 p.Arg219Leu Uncertain significance Single submitter
- CFAP73 p.Arg226His Uncertain significance Single submitter
- CFAP73 p.Arg250Cys Uncertain significance Single submitter
- CFAP73 p.Arg34Cys Uncertain significance Single submitter
- CFAP73 p.Arg57Cys Uncertain significance Single submitter
- CFAP73 p.Asn239Asp Uncertain significance Single submitter
- CFAP73 p.Asp90Tyr Uncertain significance Single submitter
- CFAP73 p.Glu152Lys Uncertain significance Single submitter
- CFAP73 p.Glu282Gln Uncertain significance Single submitter
- CFAP73 p.Leu123Phe Uncertain significance Single submitter
- CFAP73 p.Leu185Phe Uncertain significance Single submitter
- CFAP73 p.Leu220Arg Uncertain significance Single submitter
- CFAP73 p.Leu247Phe Uncertain significance Single submitter
- CFAP73 p.Lys244Glu Uncertain significance Single submitter
- CFAP73 p.Lys38Met Uncertain significance Single submitter
- CFAP73 p.Ser232Tyr Uncertain significance Single submitter
- CFAP73 p.Thr277Met Uncertain significance Single submitter
- CFAP73 p.Tyr8Cys Uncertain significance Single submitter
- CFAP73 p.Val114Met Uncertain significance Single submitter
- CFAP73 p.Val255Leu Uncertain significance Single submitter
All CFAP73 variants
Likely benign 4
- p.Ala2Val Single submitter ⚠
- p.Arg128Gln Single submitter
- p.Asn257= Single submitter
- p.Asn96Ser Single submitter
Uncertain significance 46
- p.Ala103Val Single submitter ⚠
- p.Ala109Gly Single submitter ⚠
- p.Ala150Glu Single submitter ⚠
- p.Ala171Thr Single submitter ⚠
- p.Ala175Val Single submitter ⚠
- p.Ala186Ser Single submitter ⚠
- p.Ala214Thr Single submitter ⚠
- p.Arg106Lys Single submitter ⚠
- p.Arg10Leu Single submitter ⚠
- p.Arg111Gly Single submitter ⚠
- p.Arg127Gly Single submitter ⚠
- p.Arg135Gly Single submitter ⚠
- p.Arg145Pro Single submitter ⚠
- p.Arg219Leu Single submitter ⚠
- p.Arg226His Single submitter ⚠
- p.Arg250Cys Single submitter ⚠
- p.Arg34Cys Single submitter ⚠
- p.Arg57Cys Single submitter ⚠
- p.Asn239Asp Single submitter ⚠
- p.Asp46Glu Single submitter ⚠
- p.Asp90Tyr Single submitter ⚠
- p.Gln217Arg Single submitter ⚠
- p.Gln266Arg Single submitter ⚠
- p.Gln268Lys Single submitter ⚠
- p.Gln40Arg Single submitter ⚠
- p.Glu152Lys Single submitter ⚠
- p.Glu26Asp Single submitter ⚠
- p.Glu26Gly Single submitter ⚠
- p.Glu282Gln Single submitter ⚠
- p.Ile235Val Single submitter ⚠
- p.Leu123Phe Single submitter ⚠
- p.Leu163Val Single submitter ⚠
- p.Leu185Phe Single submitter ⚠
- p.Leu220Arg Single submitter ⚠
- p.Leu247Phe Single submitter ⚠
- p.Lys233Arg Single submitter ⚠
- p.Lys244Glu Single submitter ⚠
- p.Lys38Met Single submitter ⚠
- p.Phe259Tyr Single submitter ⚠
- p.Ser232Tyr Single submitter ⚠
- p.Thr227Arg Single submitter ⚠
- p.Thr277Met Single submitter ⚠
- p.Tyr8Cys Single submitter ⚠
- p.Val114Met Single submitter ⚠
- p.Val255Leu Single submitter ⚠
- p.Val284Glu Single submitter ⚠