MAFK — 15 ClinVar variants
All ClinVar germline MAFK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
15 Uncertain significance
Full MAFK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MAFK p.Ala17Val Uncertain significance Single submitter
- MAFK p.Arg69His Uncertain significance Single submitter
- MAFK p.Asn20Asp Uncertain significance Single submitter
- MAFK p.Glu144Gly Uncertain significance Single submitter
- MAFK p.Gly18Ser Uncertain significance Single submitter
- MAFK p.Lys130Arg Uncertain significance Single submitter
- MAFK p.Pro5Arg Uncertain significance Single submitter
- MAFK p.Ser153Leu Uncertain significance Single submitter
- MAFK p.Thr45Ser Uncertain significance Single submitter
- MAFK p.Thr50Ala Uncertain significance Single submitter
- MAFK p.Thr50Ile Uncertain significance Single submitter
- MAFK p.Val84Met Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All MAFK variants
Uncertain significance 15
- p.Ala17Val Single submitter ⚠
- p.Arg119His Single submitter ⚠
- p.Arg51His Single submitter ⚠
- p.Arg69His Single submitter ⚠
- p.Asn20Asp Single submitter ⚠
- p.Glu144Gly Single submitter ⚠
- p.Gly18Ser Single submitter ⚠
- p.Lys130Arg Single submitter ⚠
- p.Pro5Arg Single submitter ⚠
- p.Ser153Leu Single submitter ⚠
- p.Thr45Ser Single submitter ⚠
- p.Thr50Ala Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Val136Ile Single submitter
- p.Val84Met Single submitter ⚠