PRKAA1 — 36 ClinVar variants
All ClinVar germline PRKAA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Conflicting · 2 Benign · 1 Likely benign · 32 Uncertain significance
Full PRKAA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKAA1 p.Ala484Gly Uncertain significance Single submitter
- PRKAA1 p.Arg416Gln Uncertain significance Single submitter
- PRKAA1 p.Arg501Leu Uncertain significance Single submitter
- PRKAA1 p.Asn324His Uncertain significance Single submitter
- PRKAA1 p.Asn418Lys Uncertain significance Single submitter
- PRKAA1 p.Gln513Arg Uncertain significance Single submitter
- PRKAA1 p.Glu480Lys Uncertain significance Single submitter
- PRKAA1 p.His18Pro Uncertain significance Single submitter
- PRKAA1 p.His18Tyr Uncertain significance Single submitter
- PRKAA1 p.Ile28Val Uncertain significance Single submitter
- PRKAA1 p.Ile477Ser Uncertain significance Single submitter
- PRKAA1 p.Leu135Val Uncertain significance Single submitter
- PRKAA1 p.Leu362Val Uncertain significance Single submitter
- PRKAA1 p.Leu528Phe Uncertain significance Single submitter
- PRKAA1 p.Lys236Met Uncertain significance Single submitter
- PRKAA1 p.Pro245Leu Uncertain significance Single submitter
- PRKAA1 p.Pro537Leu Uncertain significance Single submitter
- PRKAA1 p.Pro539Thr Uncertain significance Single submitter
- PRKAA1 p.Ser494Leu Uncertain significance Single submitter
- PRKAA1 p.Ser506Arg Uncertain significance Single submitter
- PRKAA1 p.Ser530Phe Uncertain significance Single submitter
- PRKAA1 p.Thr388Ser Uncertain significance Single submitter
- PRKAA1 p.Thr490Ala Uncertain significance Single submitter
- PRKAA1 p.Tyr294Cys Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PRKAA1 variants
Conflicting classifications of pathogenicity 1
- p.His387Arg Single submitter ⚠
Likely benign 1
- p.Lys429Arg Single submitter
Uncertain significance 32
- c.363+468G>T Single submitter
- c.363+472C>T Single submitter
- p.Ala484Gly Single submitter ⚠
- p.Arg416Gln Single submitter ⚠
- p.Arg501Leu Single submitter ⚠
- p.Asn324His Single submitter ⚠
- p.Asn418Lys Single submitter ⚠
- p.Asn449Ser Single submitter ⚠
- p.Gln513Arg Single submitter ⚠
- p.Glu480Lys Single submitter ⚠
- p.His18Pro Single submitter ⚠
- p.His18Tyr Single submitter ⚠
- p.Ile28Val Single submitter ⚠
- p.Ile299Thr Single submitter
- p.Ile477Ser Single submitter ⚠
- p.Leu112Val Single submitter ⚠
- p.Leu135Val Single submitter ⚠
- p.Leu362Val Single submitter ⚠
- p.Leu528Phe Single submitter ⚠
- p.Lys236Met Single submitter ⚠
- p.Pro245Leu Single submitter ⚠
- p.Pro450Thr Single submitter ⚠
- p.Pro537Leu Single submitter ⚠
- p.Pro539Thr Single submitter ⚠
- p.Ser356Asn Single submitter ⚠
- p.Ser494Leu Single submitter ⚠
- p.Ser506Arg Single submitter ⚠
- p.Ser530Phe Single submitter ⚠
- p.Thr388Ser Single submitter ⚠
- p.Thr490Ala Single submitter ⚠
- p.Tyr243Cys Single submitter ⚠
- p.Tyr294Cys Single submitter ⚠