CATSPERZ — 36 ClinVar variants
All ClinVar germline CATSPERZ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
4 Likely benign · 32 Uncertain significance
Full CATSPERZ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CATSPERZ p.Ala112Thr Uncertain significance Single submitter
- CATSPERZ p.Ala129Val Uncertain significance Single submitter
- CATSPERZ p.Arg166Gln Uncertain significance Single submitter
- CATSPERZ p.Arg166Trp Uncertain significance Single submitter
- CATSPERZ p.Arg193Gln Uncertain significance Single submitter
- CATSPERZ p.Arg57Cys Uncertain significance Single submitter
- CATSPERZ p.Arg63His Uncertain significance Single submitter
- CATSPERZ p.Arg63Pro Uncertain significance Single submitter
- CATSPERZ p.Asn58His Uncertain significance Single submitter
- CATSPERZ p.Asp110Asn Uncertain significance Single submitter
- CATSPERZ p.Asp19Glu Uncertain significance Single submitter
- CATSPERZ p.Asp26Asn Uncertain significance Single submitter
- CATSPERZ p.Gln114Pro Uncertain significance Single submitter
- CATSPERZ p.Glu140Lys Uncertain significance Single submitter
- CATSPERZ p.Glu75Gln Uncertain significance Single submitter
- CATSPERZ p.Glu75Val Uncertain significance Single submitter
- CATSPERZ p.Glu93Gly Uncertain significance Single submitter
- CATSPERZ p.Gly173Cys Uncertain significance Single submitter
- CATSPERZ p.Gly71Ser Uncertain significance Single submitter
- CATSPERZ p.Ile160Val Uncertain significance Single submitter
- CATSPERZ p.Lys11Thr Uncertain significance Single submitter
- CATSPERZ p.Met102Val Uncertain significance Single submitter
- CATSPERZ p.Met123Thr Uncertain significance Single submitter
- CATSPERZ p.Met123Val Uncertain significance Single submitter
- CATSPERZ p.Ser113Phe Uncertain significance Single submitter
- CATSPERZ p.Ser194Arg Uncertain significance Single submitter
- CATSPERZ p.Ser194Ile Uncertain significance Single submitter
- CATSPERZ p.Ser46Phe Uncertain significance Single submitter
- CATSPERZ p.Ser60Thr Uncertain significance Single submitter
- CATSPERZ p.Thr32Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CATSPERZ variants
Likely benign 4
- p.Asp29Asn Single submitter
- p.Gln16Arg Single submitter
- p.Gly76Glu Single submitter
- p.Ser194Asn Single submitter
Uncertain significance 32
- p.Ala112Thr Single submitter ⚠
- p.Ala129Val Single submitter ⚠
- p.Arg166Gln Single submitter ⚠
- p.Arg166Trp Single submitter ⚠
- p.Arg193Gln Single submitter ⚠
- p.Arg57Cys Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Arg63Pro Single submitter ⚠
- p.Asn58His Single submitter ⚠
- p.Asp110Asn Single submitter ⚠
- p.Asp19Glu Single submitter ⚠
- p.Asp26Asn Single submitter ⚠
- p.Gln114Pro Single submitter ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu75Gln Single submitter ⚠
- p.Glu75Val Single submitter ⚠
- p.Glu93Gly Single submitter ⚠
- p.Gly173Cys Single submitter ⚠
- p.Gly71Ser Single submitter ⚠
- p.Ile160Val Single submitter ⚠
- p.Leu147Pro Single submitter ⚠
- p.Lys11Thr Single submitter ⚠
- p.Met102Val Single submitter ⚠
- p.Met123Thr Single submitter ⚠
- p.Met123Val Single submitter ⚠
- p.Ser113Phe Single submitter ⚠
- p.Ser194Arg Single submitter ⚠
- p.Ser194Ile Single submitter ⚠
- p.Ser46Phe Single submitter ⚠
- p.Ser60Thr Single submitter ⚠
- p.Thr32Ala Single submitter ⚠
- p.Trp31Arg Single submitter ⚠