PSME1 — 30 ClinVar variants
All ClinVar germline PSME1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Likely benign · 29 Uncertain significance
Full PSME1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSME1 p.Arg181Cys Uncertain significance Single submitter
- PSME1 p.Arg198Pro Uncertain significance Single submitter
- PSME1 p.Arg210Trp Uncertain significance Single submitter
- PSME1 p.Arg213Trp Uncertain significance Single submitter
- PSME1 p.Arg220Cys Uncertain significance Single submitter
- PSME1 p.Arg77Gln Uncertain significance Single submitter
- PSME1 p.Asn27Ser Uncertain significance Single submitter
- PSME1 p.Asp41Asn Uncertain significance Single submitter
- PSME1 p.Gly169Ala Uncertain significance Single submitter
- PSME1 p.Leu130Val Uncertain significance Single submitter
- PSME1 p.Met217Leu Uncertain significance Single submitter
- PSME1 p.Pro47Ala Uncertain significance Single submitter
- PSME1 p.Pro60Ser Uncertain significance Single submitter
- PSME1 p.Pro64Leu Uncertain significance Single submitter
- PSME1 p.Pro64Ser Uncertain significance Single submitter
- PSME1 p.Ser175Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PSME1 p.Ala151Thr Uncertain significance Single submitter
- PSME1 p.Arg198Gln Uncertain significance Single submitter
- PSME1 p.Arg77Trp Uncertain significance Single submitter
- PSME1 p.Lys79Thr Uncertain significance Single submitter
- PSME1 p.Phe157Cys Uncertain significance Single submitter
- PSME1 p.Thr172Ile Uncertain significance Single submitter
All PSME1 variants
Likely benign 1
- p.Val111= Single submitter
Uncertain significance 29
- c.669+33G>C Single submitter
- c.669+50C>A Single submitter
- c.669+56A>G Single submitter
- c.669+80G>C Single submitter
- p.Ala151Thr Single submitter ⚠
- p.Arg181Cys Single submitter ⚠
- p.Arg198Gln Single submitter ⚠
- p.Arg198Pro Single submitter ⚠
- p.Arg210Trp Single submitter ⚠
- p.Arg213Trp Single submitter ⚠
- p.Arg220Cys Single submitter ⚠
- p.Arg77Gln Single submitter ⚠
- p.Arg77Trp Single submitter ⚠
- p.Asn27Ser Single submitter ⚠
- p.Asp41Asn Single submitter ⚠
- p.Asp41Gly Single submitter
- p.Glu126Gly Single submitter
- p.Gly169Ala Single submitter ⚠
- p.Leu130Val Single submitter ⚠
- p.Leu61Val Single submitter
- p.Lys79Thr Single submitter ⚠
- p.Met217Leu Single submitter ⚠
- p.Phe157Cys Single submitter ⚠
- p.Pro47Ala Single submitter ⚠
- p.Pro60Ser Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Pro64Ser Single submitter ⚠
- p.Ser175Ala Single submitter ⚠
- p.Thr172Ile Single submitter ⚠