RPS6KA5 — 87 ClinVar variants
All ClinVar germline RPS6KA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →
1 Likely benign · 86 Uncertain significance
Full RPS6KA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 80
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 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPS6KA5 p.Ala328Thr Uncertain significance Single submitter
- RPS6KA5 p.Ala363Val Uncertain significance Single submitter
- RPS6KA5 p.Ala634Val Uncertain significance Single submitter
- RPS6KA5 p.Ala786Pro Uncertain significance Single submitter
- RPS6KA5 p.Arg148His Uncertain significance Single submitter
- RPS6KA5 p.Arg292Cys Uncertain significance Single submitter
- RPS6KA5 p.Arg292His Uncertain significance Single submitter
- RPS6KA5 p.Arg340Gln Uncertain significance Single submitter
- RPS6KA5 p.Arg402Cys Uncertain significance Single submitter
- RPS6KA5 p.Arg509His Uncertain significance Single submitter
- RPS6KA5 p.Arg67Cys Uncertain significance Single submitter
- RPS6KA5 p.Arg67His Uncertain significance Single submitter
- RPS6KA5 p.Asn407Asp Uncertain significance Single submitter
- RPS6KA5 p.Asn464Ser Uncertain significance Single submitter
- RPS6KA5 p.Asn480Ser Uncertain significance Single submitter
- RPS6KA5 p.Asn655Ser Uncertain significance Single submitter
- RPS6KA5 p.Asn684Ser Uncertain significance Single submitter
- RPS6KA5 p.Asn790Ser Uncertain significance Single submitter
- RPS6KA5 p.Asp17Gly Uncertain significance Single submitter
- RPS6KA5 p.Asp20Gly Uncertain significance Single submitter
- RPS6KA5 p.Asp288Glu Uncertain significance Single submitter
- RPS6KA5 p.Asp310Asn Uncertain significance Single submitter
- RPS6KA5 p.Asp356Glu Uncertain significance Single submitter
- RPS6KA5 p.Asp645Glu Uncertain significance Single submitter
- RPS6KA5 p.Asp73Gly Uncertain significance Single submitter
- RPS6KA5 p.Asp787Val Uncertain significance Single submitter
- RPS6KA5 p.Cys631Arg Uncertain significance Single submitter
- RPS6KA5 p.Gln280Arg Uncertain significance Single submitter
- RPS6KA5 p.Glu350Gly Uncertain significance Single submitter
- RPS6KA5 p.Glu792Gly Uncertain significance Single submitter
- RPS6KA5 p.Gly172Trp Uncertain significance Single submitter
- RPS6KA5 p.Gly18Arg Uncertain significance Single submitter
- RPS6KA5 p.Gly19Val Uncertain significance Single submitter
- RPS6KA5 p.Gly21Arg Uncertain significance Single submitter
- RPS6KA5 p.Gly21Val Uncertain significance Single submitter
- RPS6KA5 p.Gly9Cys Uncertain significance Single submitter
- RPS6KA5 p.His485Asn Uncertain significance Single submitter
- RPS6KA5 p.Ile134Val Uncertain significance Single submitter
- RPS6KA5 p.Ile183Met Uncertain significance Single submitter
- RPS6KA5 p.Ile391Val Uncertain significance Single submitter
- RPS6KA5 p.Ile439Val Uncertain significance Single submitter
- RPS6KA5 p.Leu668Ile Uncertain significance Single submitter
- RPS6KA5 p.Lys320Glu Uncertain significance Single submitter
- RPS6KA5 p.Lys514Gln Uncertain significance Single submitter
- RPS6KA5 p.Lys654Glu Uncertain significance Single submitter
- RPS6KA5 p.Phe49Val Uncertain significance Single submitter
- RPS6KA5 p.Pro574Leu Uncertain significance Single submitter
- RPS6KA5 p.Pro739His Uncertain significance Single submitter
- RPS6KA5 p.Pro791Leu Uncertain significance Single submitter
- RPS6KA5 p.Ser274Asn Uncertain significance Single submitter
- RPS6KA5 p.Ser647Thr Uncertain significance Single submitter
- RPS6KA5 p.Ser760Asn Uncertain significance Single submitter
- RPS6KA5 p.Ser8Arg Uncertain significance Single submitter
- RPS6KA5 p.Thr585Pro Uncertain significance Single submitter
- RPS6KA5 p.Thr632Ser Uncertain significance Single submitter
- RPS6KA5 p.Thr779Ile Uncertain significance Single submitter
- RPS6KA5 p.Tyr246Cys Uncertain significance Single submitter
- RPS6KA5 p.Tyr420Cys Uncertain significance Single submitter
- RPS6KA5 p.Tyr599Cys Uncertain significance Single submitter
- RPS6KA5 p.Tyr60His Uncertain significance Single submitter
- RPS6KA5 p.Tyr613Cys Uncertain significance Single submitter
- RPS6KA5 p.Val400Ala Uncertain significance Single submitter
- RPS6KA5 p.Val610Ile Uncertain significance Single submitter
- RPS6KA5 p.Val711Leu Uncertain significance Single submitter
- RPS6KA5 p.Val711Met Uncertain significance Single submitter
- RPS6KA5 p.Val89Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
-
RPS6KA5 p.Pro298Thr
Uncertain significance
Multiple submitters
RPS6KA5-related disorder
- RPS6KA5 p.Arg307His Uncertain significance Single submitter
- RPS6KA5 p.Arg441Gln Uncertain significance Single submitter
- RPS6KA5 p.Arg756Cys Uncertain significance Single submitter
- RPS6KA5 p.Asp258Asn Uncertain significance Single submitter
- RPS6KA5 p.Asp258His Uncertain significance Single submitter
- RPS6KA5 p.Asp325Val Uncertain significance Single submitter
- RPS6KA5 p.Glu153Ala Uncertain significance Single submitter
- RPS6KA5 p.Glu31Val Uncertain significance Single submitter
- RPS6KA5 p.Glu754Lys Uncertain significance Single submitter
- RPS6KA5 p.Lys742Glu Uncertain significance Single submitter
- RPS6KA5 p.Ser522Gly Uncertain significance Single submitter
- RPS6KA5 p.Ser533Asn Uncertain significance Single submitter
- RPS6KA5 p.Val454Ala Uncertain significance Single submitter
All RPS6KA5 variants
Likely benign 1
- p.Ser788Gly Single submitter
Uncertain significance 86
- p.Pro298Thr Multiple submitters RPS6KA5-related disorder ⚠
- p.Ala328Thr Single submitter ⚠
- p.Ala363Val Single submitter ⚠
- p.Ala634Val Single submitter ⚠
- p.Ala786Pro Single submitter ⚠
- p.Arg148His Single submitter ⚠
- p.Arg292Cys Single submitter ⚠
- p.Arg292His Single submitter ⚠
- p.Arg307His Single submitter ⚠
- p.Arg340Gln Single submitter ⚠
- p.Arg402Cys Single submitter ⚠
- p.Arg441Gln Single submitter ⚠
- p.Arg441Ter Single submitter
- p.Arg509His Single submitter ⚠
- p.Arg67Cys Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Arg756Cys Single submitter ⚠
- p.Asn407Asp Single submitter ⚠
- p.Asn464Ser Single submitter ⚠
- p.Asn480Ser Single submitter ⚠
- p.Asn655Ser Single submitter ⚠
- p.Asn684Ser Single submitter ⚠
- p.Asn790Ser Single submitter ⚠
- p.Asp17Gly Single submitter ⚠
- p.Asp20Gly Single submitter ⚠
- p.Asp258Asn Single submitter ⚠
- p.Asp258His Single submitter ⚠
- p.Asp288Glu Single submitter ⚠
- p.Asp310Asn Single submitter ⚠
- p.Asp325Val Single submitter ⚠
- p.Asp356Glu Single submitter ⚠
- p.Asp645Glu Single submitter ⚠
- p.Asp73Gly Single submitter ⚠
- p.Asp787Val Single submitter ⚠
- p.Cys631Arg Single submitter ⚠
- p.Gln280Arg Single submitter ⚠
- p.Glu153Ala Single submitter ⚠
- p.Glu31Val Single submitter ⚠
- p.Glu350Gly Single submitter ⚠
- p.Glu754Lys Single submitter ⚠
- p.Glu792Gly Single submitter ⚠
- p.Gly172Trp Single submitter ⚠
- p.Gly18Arg Single submitter ⚠
- p.Gly19Val Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly21Val Single submitter ⚠
- p.Gly9Cys Single submitter ⚠
- p.His485Asn Single submitter ⚠
- p.Ile134Val Single submitter ⚠
- p.Ile183Met Single submitter ⚠
- p.Ile391Val Single submitter ⚠
- p.Ile439Val Single submitter ⚠
- p.Ile664Met Single submitter
- p.Leu168Val Single submitter
- p.Leu668Ile Single submitter ⚠
- p.Lys320Glu Single submitter ⚠
- p.Lys514Gln Single submitter ⚠
- p.Lys654Glu Single submitter ⚠
- p.Lys742Glu Single submitter ⚠
- p.Met615Val Single submitter
- p.Phe49Val Single submitter ⚠
- p.Pro574Leu Single submitter ⚠
- p.Pro697Ala Single submitter
- p.Pro739His Single submitter ⚠
- p.Pro791Leu Single submitter ⚠
- p.Ser274Asn Single submitter ⚠
- p.Ser522Gly Single submitter ⚠
- p.Ser533Asn Single submitter ⚠
- p.Ser647Thr Single submitter ⚠
- p.Ser760Asn Single submitter ⚠
- p.Ser8Arg Single submitter ⚠
- p.Thr100Ala Single submitter
- p.Thr585Pro Single submitter ⚠
- p.Thr632Ser Single submitter ⚠
- p.Thr779Ile Single submitter ⚠
- p.Tyr246Cys Single submitter ⚠
- p.Tyr420Cys Single submitter ⚠
- p.Tyr599Cys Single submitter ⚠
- p.Tyr60His Single submitter ⚠
- p.Tyr613Cys Single submitter ⚠
- p.Val400Ala Single submitter ⚠
- p.Val454Ala Single submitter ⚠
- p.Val610Ile Single submitter ⚠
- p.Val711Leu Single submitter ⚠
- p.Val711Met Single submitter ⚠
- p.Val89Ile Single submitter ⚠