METAP2 — 29 ClinVar variants
All ClinVar germline METAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
29 Uncertain significance
Full METAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- METAP2 p.Ala51Gly Uncertain significance Single submitter
- METAP2 p.Arg144Gln Uncertain significance Single submitter
- METAP2 p.Arg326His Uncertain significance Single submitter
- METAP2 p.Arg417His Uncertain significance Single submitter
- METAP2 p.Arg422His Uncertain significance Single submitter
- METAP2 p.Asn235Ser Uncertain significance Single submitter
- METAP2 p.Asn285Asp Uncertain significance Single submitter
- METAP2 p.Asn407Ser Uncertain significance Single submitter
- METAP2 p.Asp142Tyr Uncertain significance Single submitter
- METAP2 p.Asp65Val Uncertain significance Single submitter
- METAP2 p.Asp82Val Uncertain significance Single submitter
- METAP2 p.Asp84Asn Uncertain significance Single submitter
- METAP2 p.Asp91Asn Uncertain significance Single submitter
- METAP2 p.Glu72Gly Uncertain significance Single submitter
- METAP2 p.Ile363Val Uncertain significance Single submitter
- METAP2 p.Ile394Val Uncertain significance Single submitter
- METAP2 p.Ile450Val Uncertain significance Single submitter
- METAP2 p.Leu429Ser Uncertain significance Single submitter
- METAP2 p.Lys106Asn Uncertain significance Single submitter
- METAP2 p.Lys98Arg Uncertain significance Single submitter
- METAP2 p.Phe410Leu Uncertain significance Single submitter
- METAP2 p.Ser257Asn Uncertain significance Single submitter
- METAP2 p.Thr150Ile Uncertain significance Single submitter
- METAP2 p.Thr275Met Uncertain significance Single submitter
- METAP2 p.Thr284Ala Uncertain significance Single submitter
- METAP2 p.Val183Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All METAP2 variants
Uncertain significance 29
- p.Ala51Gly Single submitter ⚠
- p.Arg144Gln Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg417His Single submitter ⚠
- p.Arg422His Single submitter ⚠
- p.Asn235Ser Single submitter ⚠
- p.Asn285Asp Single submitter ⚠
- p.Asn407Ser Single submitter ⚠
- p.Asp114Tyr Single submitter ⚠
- p.Asp142Tyr Single submitter ⚠
- p.Asp476Asn Single submitter ⚠
- p.Asp65Val Single submitter ⚠
- p.Asp82Val Single submitter ⚠
- p.Asp84Asn Single submitter ⚠
- p.Asp91Asn Single submitter ⚠
- p.Glu72Gly Single submitter ⚠
- p.Ile363Val Single submitter ⚠
- p.Ile394Val Single submitter ⚠
- p.Ile450Val Single submitter ⚠
- p.Leu429Ser Single submitter ⚠
- p.Lys106Asn Single submitter ⚠
- p.Lys98Arg Single submitter ⚠
- p.Phe410Leu Single submitter ⚠
- p.Pro119Ser Single submitter
- p.Ser257Asn Single submitter ⚠
- p.Thr150Ile Single submitter ⚠
- p.Thr275Met Single submitter ⚠
- p.Thr284Ala Single submitter ⚠
- p.Val183Ile Single submitter ⚠