PLAAT4 — 23 ClinVar variants
All ClinVar germline PLAAT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
4 Likely benign · 19 Uncertain significance
Full PLAAT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLAAT4 p.Arg18His Uncertain significance Single submitter
- PLAAT4 p.Arg64Cys Uncertain significance Single submitter
- PLAAT4 p.Arg64His Uncertain significance Single submitter
- PLAAT4 p.Arg75Gln Uncertain significance Single submitter
- PLAAT4 p.Arg87Gln Uncertain significance Single submitter
- PLAAT4 p.Arg87Trp Uncertain significance Single submitter
- PLAAT4 p.Glu22Lys Uncertain significance Single submitter
- PLAAT4 p.Gly44Arg Uncertain significance Single submitter
- PLAAT4 p.Leu19Val Uncertain significance Single submitter
- PLAAT4 p.Phe116Ser Uncertain significance Single submitter
- PLAAT4 p.Ser125Ala Uncertain significance Single submitter
- PLAAT4 p.Ser3Trp Uncertain significance Single submitter
- PLAAT4 p.Val89Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PLAAT4 p.Ala58Thr Uncertain significance Single submitter
- PLAAT4 p.Arg75Pro Uncertain significance Single submitter
- PLAAT4 p.His115Asp Uncertain significance Single submitter
- PLAAT4 p.Met99Ile Uncertain significance Single submitter
- PLAAT4 p.Tyr27Phe Uncertain significance Single submitter
- PLAAT4 p.Val89Met Uncertain significance Single submitter
All PLAAT4 variants
Likely benign 4
- p.Arg126His Single submitter
- p.Arg62Gln Single submitter
- p.Gln85fs Single submitter
- p.Ser55Gly Single submitter
Uncertain significance 19
- p.Ala58Thr Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg64Cys Single submitter ⚠
- p.Arg64His Single submitter ⚠
- p.Arg75Gln Single submitter ⚠
- p.Arg75Pro Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Glu22Lys Single submitter ⚠
- p.Gly44Arg Single submitter ⚠
- p.His115Asp Single submitter ⚠
- p.Leu19Val Single submitter ⚠
- p.Met99Ile Single submitter ⚠
- p.Phe116Ser Single submitter ⚠
- p.Ser125Ala Single submitter ⚠
- p.Ser3Trp Single submitter ⚠
- p.Tyr27Phe Single submitter ⚠
- p.Val89Leu Single submitter ⚠
- p.Val89Met Single submitter ⚠