PPP3R1 — 5 ClinVar variants
All ClinVar germline PPP3R1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
2 Benign · 3 Uncertain significance
Full PPP3R1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 split 2
The independent predictors disagree with each other — read with care.
All PPP3R1 variants
Uncertain significance 3
- p.Ala17Val Single submitter ⚠
- p.Arg97His Single submitter ⚠
- p.Phe113fs Single submitter neurodevelopmental disorder