COPS2 — 23 ClinVar variants
All ClinVar germline COPS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
1 Benign · 2 Likely benign · 20 Uncertain significance
Full COPS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COPS2 p.Arg416Gly Uncertain significance Single submitter
- COPS2 p.Asn304Ser Uncertain significance Single submitter
- COPS2 p.Glu307Gln Uncertain significance Single submitter
- COPS2 p.Gly400Val Uncertain significance Single submitter
- COPS2 p.Lys215Thr Uncertain significance Single submitter
- COPS2 p.Met287Thr Uncertain significance Single submitter
- COPS2 p.Met4Leu Uncertain significance Single submitter
- COPS2 p.Ser24Ile Uncertain significance Single submitter
- COPS2 p.Ser2Phe Uncertain significance Single submitter
- COPS2 p.Val439Asp Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- COPS2 p.Ala419Gly Uncertain significance Single submitter
- COPS2 p.Ala419Thr Uncertain significance Single submitter
- COPS2 p.Ala49Val Uncertain significance Single submitter
- COPS2 p.Arg162Gln Uncertain significance Single submitter
- COPS2 p.Arg401Gln Uncertain significance Single submitter
- COPS2 p.Arg420Gln Uncertain significance Single submitter
- COPS2 p.Asp15Asn Uncertain significance Single submitter
- COPS2 p.Asp186Glu Uncertain significance Single submitter
- COPS2 p.His399Arg Uncertain significance Single submitter
- COPS2 p.Lys263Arg Uncertain significance Single submitter
All COPS2 variants
Benign 1
- p.Pro301= Single submitter
Likely benign 2
- p.Pro47= Multiple submitters
- c.1187+9T>C Single submitter
Uncertain significance 20
- p.Ala419Gly Single submitter ⚠
- p.Ala419Thr Single submitter ⚠
- p.Ala49Val Single submitter ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg401Gln Single submitter ⚠
- p.Arg416Gly Single submitter ⚠
- p.Arg420Gln Single submitter ⚠
- p.Asn304Ser Single submitter ⚠
- p.Asp15Asn Single submitter ⚠
- p.Asp186Glu Single submitter ⚠
- p.Glu307Gln Single submitter ⚠
- p.Gly400Val Single submitter ⚠
- p.His399Arg Single submitter ⚠
- p.Lys215Thr Single submitter ⚠
- p.Lys263Arg Single submitter ⚠
- p.Met287Thr Single submitter ⚠
- p.Met4Leu Single submitter ⚠
- p.Ser24Ile Single submitter ⚠
- p.Ser2Phe Single submitter ⚠
- p.Val439Asp Single submitter ⚠