CFAP91 — 148 ClinVar variants

All ClinVar germline CFAP91 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 1 Benign · 12 Likely benign · 131 Uncertain significance

Full CFAP91 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 130

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 68

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 62

The independent predictors disagree with each other — read with care.

All CFAP91 variants

Pathogenic 1

c.682+1G>A No assertion criteria spermatogenic failure 51

Likely pathogenic 3

c.359+1G>A Single submitter spermatogenic failure 51
p.Gln545Ter Single submitter spermatogenic failure 51
p.Ile285fs Single submitter spermatogenic failure 51

Benign 1

p.Arg229Gln Single submitter ⚠

Likely benign 12

p.Ala123Thr Single submitter
p.Ala750Val Single submitter
p.Arg116Gln Single submitter
p.Arg24Lys Single submitter
p.Arg301Lys Single submitter
p.Arg335His Single submitter
p.Arg626Gln Single submitter
p.Glu8Gln Single submitter
p.His53= Single submitter
p.Ile472Val Single submitter
p.Lys140Arg Single submitter
p.Val165Ile Single submitter

Uncertain significance 131

c.501-3T>C Single submitter
p.Ala249Asp Single submitter ⚠
p.Ala256Thr Single submitter ⚠
p.Ala449Val Single submitter ⚠
p.Ala598Ser Single submitter ⚠
p.Ala718Thr Single submitter ⚠
p.Arg102Trp Single submitter ⚠
p.Arg142Pro Single submitter ⚠
p.Arg196Trp Single submitter ⚠
p.Arg22Gln Single submitter ⚠
p.Arg245Cys Single submitter ⚠
p.Arg245His Single submitter ⚠
p.Arg248Cys Single submitter ⚠
p.Arg292Leu Single submitter ⚠
p.Arg303Cys Single submitter ⚠
p.Arg303His Single submitter ⚠
p.Arg303Leu Single submitter ⚠
p.Arg318Trp Single submitter ⚠
p.Arg335Cys Single submitter ⚠
p.Arg357Lys Single submitter ⚠
p.Arg465Cys Single submitter ⚠
p.Arg476Trp Single submitter ⚠
p.Arg504Gln Single submitter ⚠
p.Arg504Trp Single submitter ⚠
p.Arg527Cys Single submitter ⚠
p.Arg552Gln Single submitter ⚠
p.Arg574Gly Single submitter ⚠
p.Arg605His Single submitter ⚠
p.Arg605Leu Single submitter ⚠
p.Arg610Gln Single submitter ⚠
p.Arg617Gln Single submitter ⚠
p.Arg624Cys Single submitter ⚠
p.Arg624Ser Single submitter ⚠
p.Arg626Trp Single submitter ⚠
p.Arg64Cys Single submitter ⚠
p.Arg684Cys Single submitter ⚠
p.Arg685Gln Single submitter ⚠
p.Arg720Trp Single submitter ⚠
p.Arg72Lys Single submitter ⚠
p.Asn385Thr Single submitter ⚠
p.Asn385Tyr Single submitter ⚠
p.Asn487Ser Single submitter ⚠
p.Asn510Ser Single submitter ⚠
p.Asn657Asp Single submitter ⚠
p.Asn717Tyr Single submitter ⚠
p.Asn765Lys Single submitter ⚠
p.Asp122Ala Single submitter ⚠
p.Asp259Glu Single submitter ⚠
p.Asp42His Single submitter CFAP91-related condition ⚠
p.Asp535His Single submitter ⚠
p.Gln370His Single submitter ⚠
p.Gln415Ter Single submitter CFAP91-related condition
p.Gln551Glu Single submitter ⚠
p.Gln662Glu Single submitter ⚠
p.Glu130Lys Single submitter ⚠
p.Glu239Lys Single submitter ⚠
p.Glu242Asp Single submitter ⚠
p.Glu246Lys Single submitter ⚠
p.Glu284Asp Single submitter ⚠
p.Glu286Gly Single submitter ⚠
p.Glu294Gly Single submitter ⚠
p.Glu491Gln Single submitter ⚠
p.Glu621Val Single submitter ⚠
p.Glu655Lys Single submitter ⚠
p.Glu660Lys Single submitter ⚠
p.Glu661Gln Single submitter ⚠
p.Glu705Gln Single submitter ⚠
p.Glu764Asp Single submitter ⚠
p.Glu764Lys Single submitter ⚠
p.Gly190Ala Single submitter ⚠
p.Gly228Asp Single submitter ⚠
p.Gly230Ser Single submitter ⚠
p.Gly230Val Single submitter ⚠
p.Gly346Glu Single submitter ⚠
p.Gly505Ser Single submitter ⚠
p.Gly573Glu Single submitter ⚠
p.Gly616Asp Single submitter ⚠
p.His107Tyr Single submitter ⚠
p.His30Tyr Single submitter ⚠
p.His3Gln Single submitter ⚠
p.His53Tyr Single submitter ⚠
p.His82Arg Single submitter ⚠
p.Ile360Thr Single submitter ⚠
p.Ile650Met Single submitter ⚠
p.Ile693Val Single submitter ⚠
p.Leu293Arg Single submitter ⚠
p.Leu322Val Single submitter ⚠
p.Leu405His Single submitter ⚠
p.Leu503Ile Single submitter ⚠
p.Leu556Ser Single submitter ⚠
p.Leu583Met Single submitter ⚠
p.Leu587Met Single submitter ⚠
p.Leu688Val Single submitter ⚠
p.Lys129Glu Single submitter ⚠
p.Lys144Glu Single submitter ⚠
p.Lys179Glu Single submitter ⚠
p.Lys332Asn Single submitter ⚠
p.Lys454Thr Single submitter ⚠
p.Met312Arg Single submitter ⚠
p.Met312Val Single submitter ⚠
p.Met492Leu Single submitter ⚠
p.Met681Val Single submitter ⚠
p.Met737Val Single submitter ⚠
p.Phe146Cys Single submitter ⚠
p.Phe154Leu Single submitter ⚠
p.Phe173Ser Single submitter ⚠
p.Phe389Leu Single submitter ⚠
p.Pro149Leu Single submitter ⚠
p.Pro232Ala Single submitter ⚠
p.Pro374Leu Single submitter ⚠
p.Pro382Arg Single submitter ⚠
p.Pro416His Single submitter ⚠
p.Pro463Thr Single submitter ⚠
p.Pro473Leu Single submitter ⚠
p.Pro478Ser Single submitter ⚠
p.Ser29Asn Single submitter ⚠
p.Ser33Phe Single submitter ⚠
p.Ser700Gly Single submitter ⚠
p.Ser736Asn Single submitter ⚠
p.Ser736Ile Single submitter ⚠
p.Thr485Met Single submitter ⚠
p.Thr547Asn Single submitter ⚠
p.Thr54Ile Single submitter ⚠
p.Tyr143His Single submitter ⚠
p.Tyr171Phe Single submitter ⚠
p.Tyr394Cys Single submitter ⚠
p.Val446Ile Single submitter ⚠
p.Val446Phe Single submitter ⚠
p.Val47Met Single submitter ⚠
p.Val539Met Single submitter ⚠
p.Val698Ile Single submitter ⚠