MAPKAPK5 — 67 ClinVar variants
All ClinVar germline MAPKAPK5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
6 Pathogenic · 8 Likely benign · 53 Uncertain significance
Full MAPKAPK5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MAPKAPK5 p.Asn339Lys Uncertain significance Multiple submitters
- MAPKAPK5 p.Ala10Thr Uncertain significance Single submitter
- MAPKAPK5 p.Ala10Val Uncertain significance Single submitter
- MAPKAPK5 p.Ala324Val Uncertain significance Single submitter
- MAPKAPK5 p.Ala389Val Uncertain significance Single submitter
- MAPKAPK5 p.Arg442Cys Uncertain significance Single submitter
- MAPKAPK5 p.Arg56Cys Uncertain significance Single submitter
- MAPKAPK5 p.Arg64Cys Uncertain significance Single submitter
- MAPKAPK5 p.Asn74Asp Uncertain significance Single submitter
- MAPKAPK5 p.Asp148Glu Uncertain significance Single submitter
- MAPKAPK5 p.Asp344Glu Uncertain significance Single submitter
- MAPKAPK5 p.Asp378Asn Uncertain significance Single submitter
- MAPKAPK5 p.Asp6Gly Uncertain significance Single submitter
- MAPKAPK5 p.Gln330Arg Uncertain significance Single submitter
- MAPKAPK5 p.Glu335Asp Uncertain significance Single submitter
- MAPKAPK5 p.Glu384Lys Uncertain significance Single submitter
- MAPKAPK5 p.Glu469Asp Uncertain significance Single submitter
- MAPKAPK5 p.Glu469Lys Uncertain significance Single submitter
- MAPKAPK5 p.Glu4Lys Uncertain significance Single submitter
- MAPKAPK5 p.Glu62Gln Uncertain significance Single submitter
- MAPKAPK5 p.Gly443Arg Uncertain significance Single submitter
- MAPKAPK5 p.Ile11Val Uncertain significance Single submitter
- MAPKAPK5 p.Ile144Leu Uncertain significance Single submitter
- MAPKAPK5 p.Ile144Val Uncertain significance Single submitter
- MAPKAPK5 p.Leu149Phe Uncertain significance Single submitter
- MAPKAPK5 p.Leu167Phe Uncertain significance Single submitter
- MAPKAPK5 p.Leu17Ser Uncertain significance Single submitter
- MAPKAPK5 p.Lys203Arg Uncertain significance Single submitter
- MAPKAPK5 p.Lys286Arg Uncertain significance Single submitter
- MAPKAPK5 p.Lys422Arg Uncertain significance Single submitter
- MAPKAPK5 p.Lys58Gln Uncertain significance Single submitter
- MAPKAPK5 p.Met321Thr Uncertain significance Single submitter
- MAPKAPK5 p.Met417Val Uncertain significance Single submitter
- MAPKAPK5 p.Met67Val Uncertain significance Single submitter
- MAPKAPK5 p.Met7Val Uncertain significance Single submitter
- MAPKAPK5 p.Pro210Thr Uncertain significance Single submitter
- MAPKAPK5 p.Pro213Leu Uncertain significance Single submitter
- MAPKAPK5 p.Ser206Tyr Uncertain significance Single submitter
- MAPKAPK5 p.Thr214Met Uncertain significance Single submitter
- MAPKAPK5 p.Thr465Ser Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
-
MAPKAPK5 p.Ala197Val
Uncertain significance
Single submitter
syndromic disease
- MAPKAPK5 p.Asn424Thr Uncertain significance Single submitter
- MAPKAPK5 p.Gln336His Uncertain significance Single submitter
- MAPKAPK5 p.Gln87His Uncertain significance Single submitter
- MAPKAPK5 p.Leu180Val Uncertain significance Single submitter
- MAPKAPK5 p.Leu227Val Uncertain significance Single submitter
- MAPKAPK5 p.Pro315Leu Uncertain significance Single submitter
- MAPKAPK5 p.Tyr242His Uncertain significance Single submitter
- MAPKAPK5 p.Val280Phe Uncertain significance Single submitter
-
MAPKAPK5 p.Ala398Val
Uncertain significance
No assertion criteria
neurocardiofaciodigital syndrome
All MAPKAPK5 variants
Pathogenic 6
- p.Leu360fs Single submitter neurocardiofaciodigital syndrome
- p.Ala70fs No assertion criteria neurocardiofaciodigital syndrome
- p.Arg394Ter No assertion criteria neurocardiofaciodigital syndrome
- p.Gln435Ter No assertion criteria neurocardiofaciodigital syndrome
- p.Gly107Val No assertion criteria neurocardiofaciodigital syndrome
- p.Leu224fs No assertion criteria neurocardiofaciodigital syndrome
Likely benign 8
- p.Leu235= Multiple submitters
- c.660+14T>G Single submitter
- p.Ala197= Single submitter
- p.Ala309= Single submitter
- p.Ala334= Single submitter
- p.Arg137Gln Single submitter
- p.Arg450= Single submitter
- p.Gln331= Single submitter
Uncertain significance 53
- p.Asn339Lys Multiple submitters ⚠
- p.Ala10Thr Single submitter ⚠
- p.Ala10Val Single submitter ⚠
- p.Ala197Val Single submitter syndromic disease ⚠
- p.Ala324Val Single submitter ⚠
- p.Ala389Val Single submitter ⚠
- p.Arg442Cys Single submitter ⚠
- p.Arg47Trp Single submitter
- p.Arg56Cys Single submitter ⚠
- p.Arg64Cys Single submitter ⚠
- p.Asn424Thr Single submitter ⚠
- p.Asn74Asp Single submitter ⚠
- p.Asp148Glu Single submitter ⚠
- p.Asp344Glu Single submitter ⚠
- p.Asp378Asn Single submitter ⚠
- p.Asp6Gly Single submitter ⚠
- p.Gln330Arg Single submitter ⚠
- p.Gln336His Single submitter ⚠
- p.Gln87Arg Single submitter
- p.Gln87His Single submitter ⚠
- p.Glu335Asp Single submitter ⚠
- p.Glu384Lys Single submitter ⚠
- p.Glu469Asp Single submitter ⚠
- p.Glu469Lys Single submitter ⚠
- p.Glu4Lys Single submitter ⚠
- p.Glu62Gln Single submitter ⚠
- p.Gly367Arg Single submitter
- p.Gly443Arg Single submitter ⚠
- p.Ile11Val Single submitter ⚠
- p.Ile144Leu Single submitter ⚠
- p.Ile144Val Single submitter ⚠
- p.Leu149Phe Single submitter ⚠
- p.Leu167Phe Single submitter ⚠
- p.Leu17Ser Single submitter ⚠
- p.Leu180Val Single submitter ⚠
- p.Leu227Val Single submitter ⚠
- p.Lys203Arg Single submitter ⚠
- p.Lys286Arg Single submitter ⚠
- p.Lys422Arg Single submitter ⚠
- p.Lys58Gln Single submitter ⚠
- p.Met321Thr Single submitter ⚠
- p.Met417Val Single submitter ⚠
- p.Met67Val Single submitter ⚠
- p.Met7Val Single submitter ⚠
- p.Pro210Thr Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro315Leu Single submitter ⚠
- p.Ser206Tyr Single submitter ⚠
- p.Thr214Met Single submitter ⚠
- p.Thr465Ser Single submitter ⚠
- p.Tyr242His Single submitter ⚠
- p.Val280Phe Single submitter ⚠
- p.Ala398Val No assertion criteria neurocardiofaciodigital syndrome ⚠