CATSPERB — 139 ClinVar variants

All ClinVar germline CATSPERB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →

1 Pathogenic · 14 Likely benign · 124 Uncertain significance

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

⚑ Evidence disagreements 122

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CATSPERB p.Arg709Gln Pathogenic No assertion criteria
male infertility

Predictors lean, ClinVar uncertain 96

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

Predictors split 25

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

All CATSPERB variants

Pathogenic 1

p.Arg709Gln No assertion criteria male infertility ⚠

Likely benign 14

p.Ala746Val Single submitter
p.Arg366His Single submitter
p.Arg510His Single submitter
p.Asn959Ser Single submitter
p.Asp205Asn Single submitter
p.His218Asn Single submitter
p.Ile209Val Single submitter
p.Ile789Met Single submitter
p.Ile948Val Single submitter
p.Ser3Leu Single submitter
p.Ser696Asn Single submitter
p.Thr905= Single submitter
p.Val591Ile Single submitter
p.Val953Ile Single submitter

Uncertain significance 124

p.Ala127Val Single submitter ⚠
p.Ala190Asp Single submitter ⚠
p.Ala304Val Single submitter ⚠
p.Ala444Asp Single submitter ⚠
p.Ala444Thr Single submitter ⚠
p.Ala462Gly Single submitter ⚠
p.Ala519Thr Single submitter ⚠
p.Ala681Thr Single submitter ⚠
p.Ala878Pro Single submitter ⚠
p.Arg273Cys Single submitter ⚠
p.Arg306Gly Single submitter ⚠
p.Arg32Cys Single submitter ⚠
p.Arg403Gln Single submitter ⚠
p.Arg419Gln Single submitter ⚠
p.Arg469Cys Single submitter ⚠
p.Arg750Gln Single submitter ⚠
p.Arg943Cys Single submitter ⚠
p.Arg943His Single submitter ⚠
p.Arg963Cys Single submitter ⚠
p.Arg980Ser Single submitter ⚠
p.Asn191Ser Single submitter ⚠
p.Asn630Ser Single submitter ⚠
p.Asn769His Single submitter ⚠
p.Asn94Ser Single submitter ⚠
p.Asp246Gly Single submitter
p.Asp641Val Single submitter ⚠
p.Asp782Asn Single submitter ⚠
p.Gln441Ter Single submitter
p.Gln910Arg Single submitter ⚠
p.Glu130Gly Single submitter ⚠
p.Glu548Gly Single submitter ⚠
p.Glu960Asp Single submitter ⚠
p.Gly1013Asp Single submitter ⚠
p.Gly1020Val Single submitter ⚠
p.Gly1069Arg Single submitter ⚠
p.Gly1082Asp Single submitter ⚠
p.Gly197Val Single submitter ⚠
p.Gly39Glu Single submitter ⚠
p.Gly437Ser Single submitter ⚠
p.Gly515Arg Single submitter ⚠
p.Gly906Ser Single submitter ⚠
p.Gly95Asp Single submitter ⚠
p.His1057Tyr Single submitter ⚠
p.His139Arg Single submitter ⚠
p.His579Arg Single submitter ⚠
p.His579Tyr Single submitter ⚠
p.His724Arg Single submitter ⚠
p.His853Arg Single submitter ⚠
p.Ile1003Val Single submitter ⚠
p.Ile143Phe Single submitter ⚠
p.Ile209Thr Single submitter ⚠
p.Ile353Phe Single submitter ⚠
p.Ile401Val Single submitter ⚠
p.Ile6Met Single submitter ⚠
p.Ile713Leu Single submitter ⚠
p.Ile713Lys Single submitter ⚠
p.Ile736Thr Single submitter ⚠
p.Ile838Thr Single submitter ⚠
p.Ile843Phe Single submitter ⚠
p.Leu1052Phe Single submitter ⚠
p.Leu614Phe Single submitter ⚠
p.Leu627Val Single submitter ⚠
p.Leu672Phe Single submitter ⚠
p.Leu700Ser Single submitter ⚠
p.Leu763Val Single submitter ⚠
p.Leu985Arg Single submitter ⚠
p.Lys38Arg Single submitter ⚠
p.Lys924Arg Single submitter ⚠
p.Lys927Arg Single submitter ⚠
p.Met414Thr Single submitter ⚠
p.Met479Val Single submitter ⚠
p.Met683Val Single submitter ⚠
p.Met691Val Single submitter ⚠
p.Met835Ile Single submitter ⚠
p.Met875Thr Single submitter ⚠
p.Met875Val Single submitter ⚠
p.Phe263Ser Single submitter ⚠
p.Phe348Ile Single submitter ⚠
p.Phe40Leu Single submitter ⚠
p.Phe511Ser Single submitter ⚠
p.Pro157Leu Single submitter ⚠
p.Pro177Leu Single submitter ⚠
p.Pro336Gln Single submitter ⚠
p.Pro336Leu Single submitter ⚠
p.Pro342Arg Single submitter ⚠
p.Pro393Ser Single submitter ⚠
p.Pro405Leu Single submitter
p.Pro541Ser Single submitter ⚠
p.Pro597Leu Single submitter ⚠
p.Pro844Arg Single submitter ⚠
p.Pro895Ser Single submitter ⚠
p.Ser173Asn Single submitter ⚠
p.Ser277Leu Single submitter ⚠
p.Ser386Asn Single submitter ⚠
p.Ser409Pro Single submitter ⚠
p.Ser457Arg Single submitter ⚠
p.Ser664Ile Single submitter ⚠
p.Ser840Thr Single submitter ⚠
p.Thr102Met Single submitter ⚠
p.Thr136Asn Single submitter ⚠
p.Thr202Arg Single submitter ⚠
p.Thr212Asn Single submitter ⚠
p.Thr250Met Single submitter ⚠
p.Thr544Ala Single submitter ⚠
p.Thr595Met Single submitter ⚠
p.Thr669Ile Single submitter ⚠
p.Thr803Ala Single submitter ⚠
p.Thr814Ala Single submitter ⚠
p.Thr824Arg Single submitter ⚠
p.Tyr291Ser Single submitter ⚠
p.Tyr371His Single submitter ⚠
p.Tyr374Cys Single submitter ⚠
p.Tyr459Phe Single submitter ⚠
p.Tyr93His Single submitter ⚠
p.Tyr970Cys Single submitter ⚠
p.Val1030Ile Single submitter ⚠
p.Val1067Ala Single submitter ⚠
p.Val128Ile Single submitter ⚠
p.Val289Ala Single submitter ⚠
p.Val412Ile Single submitter ⚠
p.Val485Asp Single submitter ⚠
p.Val591Leu Single submitter ⚠
p.Val748Ile Single submitter ⚠
p.Val8Ile Single submitter ⚠