METAP1 — 36 ClinVar variants
All ClinVar germline METAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Benign · 35 Uncertain significance
Full METAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- METAP1 p.Ala169Thr Uncertain significance Single submitter
- METAP1 p.Ala355Val Uncertain significance Single submitter
- METAP1 p.Ala46Gly Uncertain significance Single submitter
- METAP1 p.Ala60Val Uncertain significance Single submitter
- METAP1 p.Arg105Thr Uncertain significance Single submitter
- METAP1 p.Asn188Ser Uncertain significance Single submitter
- METAP1 p.Asn226Ser Uncertain significance Single submitter
- METAP1 p.Ile30Val Uncertain significance Single submitter
- METAP1 p.Ile326Thr Uncertain significance Single submitter
- METAP1 p.Leu122Phe Uncertain significance Single submitter
- METAP1 p.Leu223Arg Uncertain significance Single submitter
- METAP1 p.Leu375Arg Uncertain significance Single submitter
- METAP1 p.Lys61Glu Uncertain significance Single submitter
- METAP1 p.Met329Val Uncertain significance Single submitter
- METAP1 p.Pro92Leu Uncertain significance Single submitter
- METAP1 p.Thr345Ser Uncertain significance Single submitter
- METAP1 p.Thr84Ala Uncertain significance Single submitter
- METAP1 p.Tyr91Asn Uncertain significance Single submitter
- METAP1 p.Val8Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- METAP1 p.Arg140Gln Uncertain significance Single submitter
- METAP1 p.Arg373Trp Uncertain significance Single submitter
- METAP1 p.Arg374Gln Uncertain significance Single submitter
- METAP1 p.Asn305Ser Uncertain significance Single submitter
- METAP1 p.Cys368Tyr Uncertain significance Single submitter
- METAP1 p.Glu10Lys Uncertain significance Single submitter
- METAP1 p.Ile166Val Uncertain significance Single submitter
- METAP1 p.Lys19Thr Uncertain significance Single submitter
- METAP1 p.Pro159Thr Uncertain significance Single submitter
- METAP1 p.Pro210Ala Uncertain significance Single submitter
- METAP1 p.Ser320Leu Uncertain significance Single submitter
All METAP1 variants
Benign 1
- p.Ala378= Multiple submitters
Uncertain significance 35
- p.Ala169Thr Single submitter ⚠
- p.Ala355Val Single submitter ⚠
- p.Ala46Gly Single submitter ⚠
- p.Ala60Val Single submitter ⚠
- p.Arg105Thr Single submitter ⚠
- p.Arg140Gln Single submitter ⚠
- p.Arg289Ter Single submitter intellectual disability
- p.Arg373Trp Single submitter ⚠
- p.Arg374Gln Single submitter ⚠
- p.Asn188Ser Single submitter ⚠
- p.Asn226Ser Single submitter ⚠
- p.Asn283Asp Single submitter
- p.Asn305Ser Single submitter ⚠
- p.Cys368Tyr Single submitter ⚠
- p.Glu10Lys Single submitter ⚠
- p.Ile166Val Single submitter ⚠
- p.Ile30Val Single submitter ⚠
- p.Ile326Thr Single submitter ⚠
- p.Leu122Phe Single submitter ⚠
- p.Leu223Arg Single submitter ⚠
- p.Leu375Arg Single submitter ⚠
- p.Lys19Thr Single submitter ⚠
- p.Lys247Glu Single submitter
- p.Lys49Arg Single submitter
- p.Lys61Glu Single submitter ⚠
- p.Met329Val Single submitter ⚠
- p.Pro159Thr Single submitter ⚠
- p.Pro210Ala Single submitter ⚠
- p.Pro92Leu Single submitter ⚠
- p.Ser320Leu Single submitter ⚠
- p.Thr24Ser Single submitter
- p.Thr345Ser Single submitter ⚠
- p.Thr84Ala Single submitter ⚠
- p.Tyr91Asn Single submitter ⚠
- p.Val8Met Single submitter ⚠