MAPRE1 — 15 ClinVar variants
All ClinVar germline MAPRE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
15 Uncertain significance
Full MAPRE1 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.
- MAPRE1 p.Ala138Gly Uncertain significance Single submitter
- MAPRE1 p.Arg162Lys Uncertain significance Single submitter
- MAPRE1 p.Arg222Gln Uncertain significance Single submitter
- MAPRE1 p.Arg222Trp Uncertain significance Single submitter
- MAPRE1 p.Asn104Ser Uncertain significance Single submitter
- MAPRE1 p.Asn188Ser Uncertain significance Single submitter
- MAPRE1 p.Asn201Ser Uncertain significance Single submitter
- MAPRE1 p.Asn25Ser Uncertain significance Single submitter
- MAPRE1 p.Gln73His Uncertain significance Single submitter
- MAPRE1 p.Glu264Ala Uncertain significance Single submitter
- MAPRE1 p.Gly187Asp Uncertain significance Single submitter
- MAPRE1 p.Gly219Arg Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All MAPRE1 variants
Uncertain significance 15
- p.Ala129Ser Single submitter ⚠
- p.Ala138Gly Single submitter ⚠
- p.Arg162Lys Single submitter ⚠
- p.Arg222Gln Single submitter ⚠
- p.Arg222Trp Single submitter ⚠
- p.Asn104Ser Single submitter ⚠
- p.Asn188Ser Single submitter ⚠
- p.Asn201Ser Single submitter ⚠
- p.Asn25Ser Single submitter ⚠
- p.Gln73His Single submitter ⚠
- p.Glu264Ala Single submitter ⚠
- p.Gly187Asp Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Ile56Met Single submitter
- p.Pro152His Single submitter ⚠