PRKAB2 — 17 ClinVar variants
All ClinVar germline PRKAB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
1 Benign · 16 Uncertain significance
Full PRKAB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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.
- PRKAB2 p.Ala28Gly Uncertain significance Single submitter
- PRKAB2 p.Ala28Ser Uncertain significance Single submitter
- PRKAB2 p.Asn98Ser Uncertain significance Single submitter
- PRKAB2 p.Asp248Asn Uncertain significance Single submitter
- PRKAB2 p.Asp41Val Uncertain significance Single submitter
- PRKAB2 p.Cys178Phe Uncertain significance Single submitter
- PRKAB2 p.Gln124Pro Uncertain significance Single submitter
- PRKAB2 p.Glu22Asp Uncertain significance Single submitter
- PRKAB2 p.His109Arg Uncertain significance Single submitter
- PRKAB2 p.Lys167Arg Uncertain significance Single submitter
- PRKAB2 p.Lys261Arg Uncertain significance Single submitter
- PRKAB2 p.Pro137Ser Uncertain significance Single submitter
- PRKAB2 p.Val70Ile Uncertain significance Single submitter
- PRKAB2 p.Val9Leu Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PRKAB2 variants
Benign 1
- c.156+13T>C Single submitter
Uncertain significance 16
- p.Ala28Gly Single submitter ⚠
- p.Ala28Ser Single submitter ⚠
- p.Arg77Trp Single submitter
- p.Asn98Ser Single submitter ⚠
- p.Asp248Asn Single submitter ⚠
- p.Asp41Val Single submitter ⚠
- p.Cys178Phe Single submitter ⚠
- p.Gln124Pro Single submitter ⚠
- p.Glu22Asp Single submitter ⚠
- p.His109Arg Single submitter ⚠
- p.Leu267Val Single submitter ⚠
- p.Lys167Arg Single submitter ⚠
- p.Lys261Arg Single submitter ⚠
- p.Pro137Ser Single submitter ⚠
- p.Val70Ile Single submitter ⚠
- p.Val9Leu Single submitter ⚠