COPS5 — 16 ClinVar variants
All ClinVar germline COPS5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
16 Uncertain significance
Full COPS5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COPS5 p.Ala22Val Uncertain significance Single submitter
- COPS5 p.Asn17Ser Uncertain significance Single submitter
- COPS5 p.Asp234Ala Uncertain significance Single submitter
- COPS5 p.Gln279His Uncertain significance Single submitter
- COPS5 p.Ile176Val Uncertain significance Single submitter
- COPS5 p.Ile333Val Uncertain significance Single submitter
- COPS5 p.Lys125Glu Uncertain significance Single submitter
- COPS5 p.Met8Val Uncertain significance Single submitter
- COPS5 p.Phe267Ser Uncertain significance Single submitter
- COPS5 p.Ser252Thr Uncertain significance Single submitter
- COPS5 p.Thr304Ala Uncertain significance Single submitter
- COPS5 p.Thr311Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All COPS5 variants
Uncertain significance 16
- p.Ala22Val Single submitter ⚠
- p.Asn17Ser Single submitter ⚠
- p.Asn18Thr Single submitter ⚠
- p.Asp234Ala Single submitter ⚠
- p.Asp48Asn Single submitter ⚠
- p.Gln279His Single submitter ⚠
- p.Ile176Val Single submitter ⚠
- p.Ile333Val Single submitter ⚠
- p.Lys125Glu Single submitter ⚠
- p.Met67Lys Single submitter ⚠
- p.Met8Val Single submitter ⚠
- p.Phe267Ser Single submitter ⚠
- p.Ser252Thr Single submitter ⚠
- p.Thr304Ala Single submitter ⚠
- p.Thr311Ile Single submitter ⚠
- p.Val166Ile Single submitter ⚠