CATSPERE — 7 ClinVar variants
All ClinVar germline CATSPERE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
1 Likely benign · 6 Uncertain significance
Full CATSPERE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
All CATSPERE variants
Likely benign 1
- p.Arg948His Single submitter
Uncertain significance 6
- p.Asn535His Single submitter ⚠
- p.Glu88Lys Single submitter ⚠
- p.Ile630Thr Single submitter ⚠
- p.Lys62Glu Single submitter ⚠
- p.Met799_Ala800del Single submitter
- p.Phe598Ser Single submitter ⚠