COPS8 — 29 ClinVar variants
All ClinVar germline COPS8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
29 Uncertain significance
Full COPS8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COPS8 p.Ala119Gly Uncertain significance Single submitter
- COPS8 p.Ala119Thr Uncertain significance Single submitter
- COPS8 p.Ala144Val Uncertain significance Single submitter
- COPS8 p.Ala95Thr Uncertain significance Single submitter
- COPS8 p.Arg110Lys Uncertain significance Single submitter
- COPS8 p.Asn94Ser Uncertain significance Single submitter
- COPS8 p.Asp173Gly Uncertain significance Single submitter
- COPS8 p.Asp85His Uncertain significance Single submitter
- COPS8 p.Cys20Tyr Uncertain significance Single submitter
- COPS8 p.Gln23Leu Uncertain significance Single submitter
- COPS8 p.Glu8Gly Uncertain significance Single submitter
- COPS8 p.Gly138Ala Uncertain significance Single submitter
- COPS8 p.Ile148Thr Uncertain significance Single submitter
- COPS8 p.Leu41Pro Uncertain significance Single submitter
- COPS8 p.Lys58Glu Uncertain significance Single submitter
- COPS8 p.Pro34Ala Uncertain significance Single submitter
- COPS8 p.Tyr203Cys Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- COPS8 p.Arg116Cys Uncertain significance Single submitter
- COPS8 p.Arg160Ser Uncertain significance Single submitter
- COPS8 p.Arg80Ser Uncertain significance Single submitter
- COPS8 p.Asn68His Uncertain significance Single submitter
- COPS8 p.Gln123Lys Uncertain significance Single submitter
- COPS8 p.Glu194Lys Uncertain significance Single submitter
- COPS8 p.Glu8Lys Uncertain significance Single submitter
- COPS8 p.Gly73Arg Uncertain significance Single submitter
- COPS8 p.Ile128Val Uncertain significance Single submitter
- COPS8 p.Lys15Met Uncertain significance Single submitter
- COPS8 p.Ser66Cys Uncertain significance Single submitter
- COPS8 p.Val141Ile Uncertain significance Single submitter
All COPS8 variants
Uncertain significance 29
- p.Ala119Gly Single submitter ⚠
- p.Ala119Thr Single submitter ⚠
- p.Ala144Val Single submitter ⚠
- p.Ala95Thr Single submitter ⚠
- p.Arg110Lys Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg160Ser Single submitter ⚠
- p.Arg80Ser Single submitter ⚠
- p.Asn68His Single submitter ⚠
- p.Asn94Ser Single submitter ⚠
- p.Asp173Gly Single submitter ⚠
- p.Asp85His Single submitter ⚠
- p.Cys20Tyr Single submitter ⚠
- p.Gln123Lys Single submitter ⚠
- p.Gln23Leu Single submitter ⚠
- p.Glu194Lys Single submitter ⚠
- p.Glu8Gly Single submitter ⚠
- p.Glu8Lys Single submitter ⚠
- p.Gly138Ala Single submitter ⚠
- p.Gly73Arg Single submitter ⚠
- p.Ile128Val Single submitter ⚠
- p.Ile148Thr Single submitter ⚠
- p.Leu41Pro Single submitter ⚠
- p.Lys15Met Single submitter ⚠
- p.Lys58Glu Single submitter ⚠
- p.Pro34Ala Single submitter ⚠
- p.Ser66Cys Single submitter ⚠
- p.Tyr203Cys Single submitter ⚠
- p.Val141Ile Single submitter ⚠