MAPK7 — 119 ClinVar variants

All ClinVar germline MAPK7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

3 Pathogenic · 1 Benign/Likely benign · 4 Likely benign · 111 Uncertain significance

Full MAPK7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 110

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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 83

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

All MAPK7 variants

Pathogenic 3

  • p.Ala296Thr No assertion criteria scoliosis, isolated, susceptibility to, 1 ⚠
  • p.Pro587Leu No assertion criteria scoliosis, isolated, susceptibility to, 1 ⚠
  • p.Pro648Leu No assertion criteria scoliosis, isolated, susceptibility to, 1 ⚠

Benign/Likely benign 1

Likely benign 4

Uncertain significance 111