PRKAB1 — 29 ClinVar variants
All ClinVar germline PRKAB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
1 Benign · 28 Uncertain significance
Full PRKAB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKAB1 p.Ala75Ser Uncertain significance Single submitter
- PRKAB1 p.Arg83Gln Uncertain significance Single submitter
- PRKAB1 p.Asp175Asn Uncertain significance Single submitter
- PRKAB1 p.Asp71His Uncertain significance Single submitter
- PRKAB1 p.Gln64Glu Uncertain significance Single submitter
- PRKAB1 p.Glu197Lys Uncertain significance Single submitter
- PRKAB1 p.Gly87Ser Uncertain significance Single submitter
- PRKAB1 p.Gly88Arg Uncertain significance Single submitter
- PRKAB1 p.His109Arg Uncertain significance Single submitter
- PRKAB1 p.Ile141Met Uncertain significance Single submitter
- PRKAB1 p.Ile205Val Uncertain significance Single submitter
- PRKAB1 p.Lys89Glu Uncertain significance Single submitter
- PRKAB1 p.Pro74Ala Uncertain significance Single submitter
- PRKAB1 p.Ser94Phe Uncertain significance Single submitter
- PRKAB1 p.Ser94Tyr Uncertain significance Single submitter
- PRKAB1 p.Thr134Met Uncertain significance Single submitter
- PRKAB1 p.Thr158Ser Uncertain significance Single submitter
- PRKAB1 p.Thr85Met Uncertain significance Single submitter
- PRKAB1 p.Val168Leu Uncertain significance Single submitter
- PRKAB1 p.Val193Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PRKAB1 variants
Benign 1
- p.Thr85= Single submitter
Uncertain significance 28
- p.Ala75Ser Single submitter ⚠
- p.Arg201Pro Single submitter ⚠
- p.Arg78Gln Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Asp175Asn Single submitter ⚠
- p.Asp71His Single submitter ⚠
- p.Gln64Glu Single submitter ⚠
- p.Glu197Lys Single submitter ⚠
- p.Gly87Ser Single submitter ⚠
- p.Gly88Arg Single submitter ⚠
- p.His109Arg Single submitter ⚠
- p.Ile141Met Single submitter ⚠
- p.Ile205Val Single submitter ⚠
- p.Lys89Glu Single submitter ⚠
- p.Phe128Ser Single submitter ⚠
- p.Pro104Leu Single submitter ⚠
- p.Pro140Leu Single submitter ⚠
- p.Pro74Ala Single submitter ⚠
- p.Ser94Phe Single submitter ⚠
- p.Ser94Tyr Single submitter ⚠
- p.Thr134Met Single submitter ⚠
- p.Thr143Ile Single submitter
- p.Thr158Ser Single submitter ⚠
- p.Thr219Met Single submitter
- p.Thr80Met Single submitter
- p.Thr85Met Single submitter ⚠
- p.Val168Leu Single submitter ⚠
- p.Val193Ile Single submitter ⚠