PSME2 — 28 ClinVar variants
All ClinVar germline PSME2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
2 Benign · 1 Likely benign · 25 Uncertain significance
Full PSME2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSME2 p.Ala211Ser Uncertain significance Single submitter
- PSME2 p.Ala214Thr Uncertain significance Single submitter
- PSME2 p.Arg171Cys Uncertain significance Single submitter
- PSME2 p.Arg188Gly Uncertain significance Single submitter
- PSME2 p.Gln143Arg Uncertain significance Single submitter
- PSME2 p.Gln38Lys Uncertain significance Single submitter
- PSME2 p.Gly172Arg Uncertain significance Single submitter
- PSME2 p.Ile125Leu Uncertain significance Single submitter
- PSME2 p.Leu209Val Uncertain significance Single submitter
- PSME2 p.Leu24Ile Uncertain significance Single submitter
- PSME2 p.Lys154Arg Uncertain significance Single submitter
- PSME2 p.Pro236Ser Uncertain significance Single submitter
- PSME2 p.Val191Ala Uncertain significance Single submitter
- PSME2 p.Val19Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- PSME2 p.Ala176Asp Uncertain significance Single submitter
- PSME2 p.Ala62Asp Uncertain significance Single submitter
- PSME2 p.Arg171His Uncertain significance Single submitter
- PSME2 p.Arg188Gln Uncertain significance Single submitter
- PSME2 p.Asp81His Uncertain significance Single submitter
- PSME2 p.Leu216Phe Uncertain significance Single submitter
- PSME2 p.Phe212Ser Uncertain significance Single submitter
- PSME2 p.Phe35Leu Uncertain significance Single submitter
- PSME2 p.Pro63Gln Uncertain significance Single submitter
- PSME2 p.Tyr213Cys Uncertain significance Single submitter
All PSME2 variants
Likely benign 1
- p.Ala197Val Single submitter
Uncertain significance 25
- p.Ala176Asp Single submitter ⚠
- p.Ala211Ser Single submitter ⚠
- p.Ala214Thr Single submitter ⚠
- p.Ala62Asp Single submitter ⚠
- p.Arg171Cys Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg188Gly Single submitter ⚠
- p.Asn97Ser Single submitter
- p.Asp81His Single submitter ⚠
- p.Gln143Arg Single submitter ⚠
- p.Gln38Lys Single submitter ⚠
- p.Gly172Arg Single submitter ⚠
- p.Ile125Leu Single submitter ⚠
- p.Leu209Val Single submitter ⚠
- p.Leu216Phe Single submitter ⚠
- p.Leu24Ile Single submitter ⚠
- p.Lys154Arg Single submitter ⚠
- p.Phe212Ser Single submitter ⚠
- p.Phe35Leu Single submitter ⚠
- p.Pro236Ser Single submitter ⚠
- p.Pro63Gln Single submitter ⚠
- p.Tyr213Cys Single submitter ⚠
- p.Val191Ala Single submitter ⚠
- p.Val19Ala Single submitter ⚠