PLAAT2 — 18 ClinVar variants
All ClinVar germline PLAAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
2 Likely benign · 16 Uncertain significance
Full PLAAT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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.
- PLAAT2 p.Ala147Thr Uncertain significance Single submitter
- PLAAT2 p.Ala22Val Uncertain significance Single submitter
- PLAAT2 p.Ala47Val Uncertain significance Single submitter
- PLAAT2 p.Arg121Cys Uncertain significance Single submitter
- PLAAT2 p.Arg126Cys Uncertain significance Single submitter
- PLAAT2 p.Arg95Trp Uncertain significance Single submitter
- PLAAT2 p.Glu114Lys Uncertain significance Single submitter
- PLAAT2 p.Gly132Cys Uncertain significance Single submitter
- PLAAT2 p.Leu65Pro Uncertain significance Single submitter
- PLAAT2 p.Ser107Trp Uncertain significance Single submitter
- PLAAT2 p.Thr109Asn Uncertain significance Single submitter
- PLAAT2 p.Thr135Arg Uncertain significance Single submitter
- PLAAT2 p.Thr135Met Uncertain significance Single submitter
- PLAAT2 p.Tyr122His Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All PLAAT2 variants
Likely benign 2
- p.Ile152Leu Single submitter
- p.Pro8Leu Single submitter
Uncertain significance 16
- p.Ala147Thr Single submitter ⚠
- p.Ala22Val Single submitter ⚠
- p.Ala47Val Single submitter ⚠
- p.Arg121Cys Single submitter ⚠
- p.Arg126Cys Single submitter ⚠
- p.Arg95Trp Single submitter ⚠
- p.Glu114Lys Single submitter ⚠
- p.Gly132Cys Single submitter ⚠
- p.Leu65Pro Single submitter ⚠
- p.Pro38Leu Single submitter ⚠
- p.Ser107Trp Single submitter ⚠
- p.Thr109Asn Single submitter ⚠
- p.Thr135Arg Single submitter ⚠
- p.Thr135Met Single submitter ⚠
- p.Tyr122His Single submitter ⚠
- p.Tyr32Asn Single submitter ⚠