COPS7A — 29 ClinVar variants
All ClinVar germline COPS7A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
29 Uncertain significance
Full COPS7A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COPS7A p.Met49Leu Uncertain significance Multiple submitters
- COPS7A p.Ala229Ser Uncertain significance Single submitter
- COPS7A p.Ala229Thr Uncertain significance Single submitter
- COPS7A p.Ala258Val Uncertain significance Single submitter
- COPS7A p.Ala37Thr Uncertain significance Single submitter
- COPS7A p.Ala76Thr Uncertain significance Single submitter
- COPS7A p.Arg123His Uncertain significance Single submitter
- COPS7A p.Arg151Gln Uncertain significance Single submitter
- COPS7A p.Arg160Gln Uncertain significance Single submitter
- COPS7A p.Arg160Trp Uncertain significance Single submitter
- COPS7A p.Arg164Leu Uncertain significance Single submitter
- COPS7A p.Arg252Cys Uncertain significance Single submitter
- COPS7A p.Arg65Gln Uncertain significance Single submitter
- COPS7A p.Gly39Asp Uncertain significance Single submitter
- COPS7A p.His32Tyr Uncertain significance Single submitter
- COPS7A p.Leu131Phe Uncertain significance Single submitter
- COPS7A p.Lys95Arg Uncertain significance Single submitter
- COPS7A p.Pro254Ser Uncertain significance Single submitter
- COPS7A p.Pro38Leu Uncertain significance Single submitter
- COPS7A p.Ser186Ala Uncertain significance Single submitter
- COPS7A p.Thr68Ile Uncertain significance Single submitter
- COPS7A p.Val115Leu Uncertain significance Single submitter
- COPS7A p.Val115Met Uncertain significance Single submitter
- COPS7A p.Val184Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All COPS7A variants
Uncertain significance 29
- p.Met49Leu Multiple submitters ⚠
- p.Ala19Gly Single submitter ⚠
- p.Ala229Ser Single submitter ⚠
- p.Ala229Thr Single submitter ⚠
- p.Ala258Val Single submitter ⚠
- p.Ala26Ser Single submitter
- p.Ala37Thr Single submitter ⚠
- p.Ala76Thr Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg148Cys Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg160Gln Single submitter ⚠
- p.Arg160Trp Single submitter ⚠
- p.Arg164Leu Single submitter ⚠
- p.Arg194Cys Single submitter ⚠
- p.Arg252Cys Single submitter ⚠
- p.Arg65Gln Single submitter ⚠
- p.Gly39Asp Single submitter ⚠
- p.His32Tyr Single submitter ⚠
- p.Leu131Phe Single submitter ⚠
- p.Lys23Asn Single submitter ⚠
- p.Lys95Arg Single submitter ⚠
- p.Pro254Ser Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Ser186Ala Single submitter ⚠
- p.Thr68Ile Single submitter ⚠
- p.Val115Leu Single submitter ⚠
- p.Val115Met Single submitter ⚠
- p.Val184Met Single submitter ⚠