COPS4 — 18 ClinVar variants
All ClinVar germline COPS4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
18 Uncertain significance
Full COPS4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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.
- COPS4 p.Ala10Ser Uncertain significance Single submitter
- COPS4 p.Ala4Val Uncertain significance Single submitter
- COPS4 p.Arg27Cys Uncertain significance Single submitter
- COPS4 p.Arg27Pro Uncertain significance Single submitter
- COPS4 p.Arg364Gln Uncertain significance Single submitter
- COPS4 p.Cys70Ser Uncertain significance Single submitter
- COPS4 p.Gln35Arg Uncertain significance Single submitter
- COPS4 p.Ile29Val Uncertain significance Single submitter
- COPS4 p.Lys314Ile Uncertain significance Single submitter
- COPS4 p.Ser389Thr Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- COPS4 p.Arg27His Uncertain significance Single submitter
- COPS4 p.Asn180Ser Uncertain significance Single submitter
- COPS4 p.Asp8Gly Uncertain significance Single submitter
- COPS4 p.Ile106Val Uncertain significance Single submitter
- COPS4 p.Lys82Arg Uncertain significance Single submitter
- COPS4 p.Thr363Ile Uncertain significance Single submitter
- COPS4 p.Thr88Ile Uncertain significance Single submitter
- COPS4 p.Tyr261Cys Uncertain significance Single submitter
All COPS4 variants
Uncertain significance 18
- p.Ala10Ser Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Arg27Cys Single submitter ⚠
- p.Arg27His Single submitter ⚠
- p.Arg27Pro Single submitter ⚠
- p.Arg364Gln Single submitter ⚠
- p.Asn180Ser Single submitter ⚠
- p.Asp8Gly Single submitter ⚠
- p.Cys70Ser Single submitter ⚠
- p.Gln35Arg Single submitter ⚠
- p.Ile106Val Single submitter ⚠
- p.Ile29Val Single submitter ⚠
- p.Lys314Ile Single submitter ⚠
- p.Lys82Arg Single submitter ⚠
- p.Ser389Thr Single submitter ⚠
- p.Thr363Ile Single submitter ⚠
- p.Thr88Ile Single submitter ⚠
- p.Tyr261Cys Single submitter ⚠