MAPKAP1 — 39 ClinVar variants
All ClinVar germline MAPKAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
4 Benign · 1 Likely benign · 34 Uncertain significance
Full MAPKAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MAPKAP1 p.Ala286Thr Uncertain significance Single submitter
- MAPKAP1 p.Arg202Lys Uncertain significance Single submitter
- MAPKAP1 p.Asn476Ser Uncertain significance Single submitter
- MAPKAP1 p.Asp225Asn Uncertain significance Single submitter
- MAPKAP1 p.Cys438Arg Uncertain significance Single submitter
- MAPKAP1 p.Gln68Arg Uncertain significance Single submitter
- MAPKAP1 p.Glu125Lys Uncertain significance Single submitter
- MAPKAP1 p.Gly137Ala Uncertain significance Single submitter
- MAPKAP1 p.His287Arg Uncertain significance Single submitter
- MAPKAP1 p.Ile141Leu Uncertain significance Single submitter
- MAPKAP1 p.Ile371Val Uncertain significance Single submitter
- MAPKAP1 p.Ile452Val Uncertain significance Single submitter
- MAPKAP1 p.Leu11Val Uncertain significance Single submitter
- MAPKAP1 p.Leu129Ile Uncertain significance Single submitter
- MAPKAP1 p.Lys130Thr Uncertain significance Single submitter
- MAPKAP1 p.Lys176Gln Uncertain significance Single submitter
- MAPKAP1 p.Pro247Leu Uncertain significance Single submitter
- MAPKAP1 p.Pro47Leu Uncertain significance Single submitter
- MAPKAP1 p.Ser186Asn Uncertain significance Single submitter
- MAPKAP1 p.Ser186Cys Uncertain significance Single submitter
- MAPKAP1 p.Thr8Ala Uncertain significance Single submitter
- MAPKAP1 p.Val475Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- MAPKAP1 p.Ala201Thr Uncertain significance Single submitter
- MAPKAP1 p.Arg15Gln Uncertain significance Single submitter
- MAPKAP1 p.Arg503Ile Uncertain significance Single submitter
- MAPKAP1 p.Asp33Gly Uncertain significance Single submitter
- MAPKAP1 p.Glu159Lys Uncertain significance Single submitter
- MAPKAP1 p.Ile32Thr Uncertain significance Single submitter
- MAPKAP1 p.Lys504Thr Uncertain significance Single submitter
- MAPKAP1 p.Pro150Ser Uncertain significance Single submitter
- MAPKAP1 p.Trp424Leu Uncertain significance Single submitter
All MAPKAP1 variants
Benign 4
- p.Ser488= Multiple submitters
- c.498+12942C>G Single submitter
- p.Lys302= Single submitter
- p.Thr456= Single submitter
Likely benign 1
- p.Gln16= Single submitter
Uncertain significance 34
- p.Ala201Thr Single submitter ⚠
- p.Ala229Asp Single submitter
- p.Ala286Thr Single submitter ⚠
- p.Arg15Gln Single submitter ⚠
- p.Arg202Lys Single submitter ⚠
- p.Arg503Ile Single submitter ⚠
- p.Asn476Ser Single submitter ⚠
- p.Asp178His Single submitter
- p.Asp225Asn Single submitter ⚠
- p.Asp33Gly Single submitter ⚠
- p.Cys438Arg Single submitter ⚠
- p.Gln68Arg Single submitter ⚠
- p.Glu125Lys Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Gly137Ala Single submitter ⚠
- p.His287Arg Single submitter ⚠
- p.Ile141Leu Single submitter ⚠
- p.Ile32Thr Single submitter ⚠
- p.Ile371Val Single submitter ⚠
- p.Ile411Met Single submitter
- p.Ile452Val Single submitter ⚠
- p.Leu11Val Single submitter ⚠
- p.Leu129Ile Single submitter ⚠
- p.Lys130Thr Single submitter ⚠
- p.Lys176Gln Single submitter ⚠
- p.Lys504Thr Single submitter ⚠
- p.Pro150Ser Single submitter ⚠
- p.Pro247Leu Single submitter ⚠
- p.Pro47Leu Single submitter ⚠
- p.Ser186Asn Single submitter ⚠
- p.Ser186Cys Single submitter ⚠
- p.Thr8Ala Single submitter ⚠
- p.Trp424Leu Single submitter ⚠
- p.Val475Ile Single submitter ⚠