RPS6KA4 — 84 ClinVar variants
All ClinVar germline RPS6KA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
3 Benign · 5 Likely benign · 76 Uncertain significance
Full RPS6KA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPS6KA4 p.Ala109Thr Uncertain significance Single submitter
- RPS6KA4 p.Ala218Ser Uncertain significance Single submitter
- RPS6KA4 p.Ala269Val Uncertain significance Single submitter
- RPS6KA4 p.Ala316Val Uncertain significance Single submitter
- RPS6KA4 p.Ala612Ser Uncertain significance Single submitter
- RPS6KA4 p.Ala639Ser Uncertain significance Single submitter
- RPS6KA4 p.Ala660Asp Uncertain significance Single submitter
- RPS6KA4 p.Ala679Val Uncertain significance Single submitter
- RPS6KA4 p.Ala761Pro Uncertain significance Single submitter
- RPS6KA4 p.Arg296Gln Uncertain significance Single submitter
- RPS6KA4 p.Arg319Gln Uncertain significance Single submitter
- RPS6KA4 p.Arg323His Uncertain significance Single submitter
- RPS6KA4 p.Arg413Trp Uncertain significance Single submitter
- RPS6KA4 p.Arg680Pro Uncertain significance Single submitter
- RPS6KA4 p.Arg736Leu Uncertain significance Single submitter
- RPS6KA4 p.Arg763Gly Uncertain significance Single submitter
- RPS6KA4 p.Arg763Ser Uncertain significance Single submitter
- RPS6KA4 p.Asn766Asp Uncertain significance Single submitter
- RPS6KA4 p.Asp541Asn Uncertain significance Single submitter
- RPS6KA4 p.Asp541Gly Uncertain significance Single submitter
- RPS6KA4 p.Asp658Glu Uncertain significance Single submitter
- RPS6KA4 p.Asp7Glu Uncertain significance Single submitter
- RPS6KA4 p.Cys428Phe Uncertain significance Single submitter
- RPS6KA4 p.Gln406Arg Uncertain significance Single submitter
- RPS6KA4 p.Gln584Arg Uncertain significance Single submitter
- RPS6KA4 p.Gln606Lys Uncertain significance Single submitter
- RPS6KA4 p.Glu202Ala Uncertain significance Single submitter
- RPS6KA4 p.Glu249Asp Uncertain significance Single submitter
- RPS6KA4 p.Glu471Lys Uncertain significance Single submitter
- RPS6KA4 p.Glu588Gln Uncertain significance Single submitter
- RPS6KA4 p.Glu630Gln Uncertain significance Single submitter
- RPS6KA4 p.Glu85Ala Uncertain significance Single submitter
- RPS6KA4 p.Gly286Cys Uncertain significance Single submitter
- RPS6KA4 p.Gly288Glu Uncertain significance Single submitter
- RPS6KA4 p.Gly611Glu Uncertain significance Single submitter
- RPS6KA4 p.Gly752Ser Uncertain significance Single submitter
- RPS6KA4 p.Gly767Ser Uncertain significance Single submitter
- RPS6KA4 p.His494Tyr Uncertain significance Single submitter
- RPS6KA4 p.Leu326Val Uncertain significance Single submitter
- RPS6KA4 p.Leu663Met Uncertain significance Single submitter
- RPS6KA4 p.Lys154Glu Uncertain significance Single submitter
- RPS6KA4 p.Lys313Gln Uncertain significance Single submitter
- RPS6KA4 p.Met520Leu Uncertain significance Single submitter
- RPS6KA4 p.Met707Leu Uncertain significance Single submitter
- RPS6KA4 p.Pro263Ala Uncertain significance Single submitter
- RPS6KA4 p.Pro263Ser Uncertain significance Single submitter
- RPS6KA4 p.Pro263Thr Uncertain significance Single submitter
- RPS6KA4 p.Pro349Gln Uncertain significance Single submitter
- RPS6KA4 p.Pro762Ser Uncertain significance Single submitter
- RPS6KA4 p.Pro770Ser Uncertain significance Single submitter
- RPS6KA4 p.Ser87Ala Uncertain significance Single submitter
- RPS6KA4 p.Thr246Met Uncertain significance Single submitter
- RPS6KA4 p.Thr336Ile Uncertain significance Single submitter
- RPS6KA4 p.Thr376Ala Uncertain significance Single submitter
- RPS6KA4 p.Thr376Ile Uncertain significance Single submitter
- RPS6KA4 p.Val756Phe Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- RPS6KA4 p.Ala287Val Benign Multiple submitters
- RPS6KA4 p.Arg275Trp Uncertain significance Single submitter
- RPS6KA4 p.Arg296Trp Uncertain significance Single submitter
- RPS6KA4 p.Arg487Trp Uncertain significance Single submitter
- RPS6KA4 p.Arg629His Uncertain significance Single submitter
- RPS6KA4 p.Arg669Trp Uncertain significance Single submitter
- RPS6KA4 p.Arg68Ser Uncertain significance Single submitter
- RPS6KA4 p.Asp636Tyr Uncertain significance Single submitter
- RPS6KA4 p.Glu243Lys Uncertain significance Single submitter
- RPS6KA4 p.Gly156Asp Uncertain significance Single submitter
- RPS6KA4 p.Leu481Val Uncertain significance Single submitter
- RPS6KA4 p.Leu592Val Uncertain significance Single submitter
- RPS6KA4 p.Met520Ile Uncertain significance Single submitter
- RPS6KA4 p.Met566Thr Uncertain significance Single submitter
- RPS6KA4 p.Pro259Ser Uncertain significance Single submitter
- RPS6KA4 p.Ser502Asn Uncertain significance Single submitter
- RPS6KA4 p.Ser671Arg Uncertain significance Single submitter
- RPS6KA4 p.Val657Met Uncertain significance Single submitter
All RPS6KA4 variants
Benign 3
- p.Ala287Val Multiple submitters ⚠
- p.Gln79= Multiple submitters
- p.Cys590= Single submitter
Likely benign 5
Uncertain significance 76
- p.Ala109Thr Single submitter ⚠
- p.Ala218Ser Single submitter ⚠
- p.Ala269Val Single submitter ⚠
- p.Ala316Val Single submitter ⚠
- p.Ala612Ser Single submitter ⚠
- p.Ala639Ser Single submitter ⚠
- p.Ala660Asp Single submitter ⚠
- p.Ala679Val Single submitter ⚠
- p.Ala761Pro Single submitter ⚠
- p.Arg275Trp Single submitter ⚠
- p.Arg296Gln Single submitter ⚠
- p.Arg296Trp Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Arg323His Single submitter ⚠
- p.Arg413Trp Single submitter ⚠
- p.Arg487Trp Single submitter ⚠
- p.Arg629His Single submitter ⚠
- p.Arg669Trp Single submitter ⚠
- p.Arg680Pro Single submitter ⚠
- p.Arg68Ser Single submitter ⚠
- p.Arg736Leu Single submitter ⚠
- p.Arg763Gly Single submitter ⚠
- p.Arg763Ser Single submitter ⚠
- p.Asn710Thr Single submitter
- p.Asn766Asp Single submitter ⚠
- p.Asp541Asn Single submitter ⚠
- p.Asp541Gly Single submitter ⚠
- p.Asp636Tyr Single submitter ⚠
- p.Asp658Glu Single submitter ⚠
- p.Asp7Glu Single submitter ⚠
- p.Cys428Phe Single submitter ⚠
- p.Gln406Arg Single submitter ⚠
- p.Gln584Arg Single submitter ⚠
- p.Gln606Lys Single submitter ⚠
- p.Glu202Ala Single submitter ⚠
- p.Glu243Lys Single submitter ⚠
- p.Glu249Asp Single submitter ⚠
- p.Glu26Gly Single submitter
- p.Glu471Lys Single submitter ⚠
- p.Glu588Gln Single submitter ⚠
- p.Glu630Gln Single submitter ⚠
- p.Glu85Ala Single submitter ⚠
- p.Gly156Asp Single submitter ⚠
- p.Gly286Cys Single submitter ⚠
- p.Gly288Glu Single submitter ⚠
- p.Gly611Glu Single submitter ⚠
- p.Gly752Ser Single submitter ⚠
- p.Gly767Ser Single submitter ⚠
- p.His151Arg Single submitter
- p.His494Tyr Single submitter ⚠
- p.Leu326Val Single submitter ⚠
- p.Leu481Val Single submitter ⚠
- p.Leu592Val Single submitter ⚠
- p.Leu663Met Single submitter ⚠
- p.Lys154Glu Single submitter ⚠
- p.Lys313Gln Single submitter ⚠
- p.Met520Ile Single submitter ⚠
- p.Met520Leu Single submitter ⚠
- p.Met566Thr Single submitter ⚠
- p.Met707Leu Single submitter ⚠
- p.Pro259Ser Single submitter ⚠
- p.Pro263Ala Single submitter ⚠
- p.Pro263Ser Single submitter ⚠
- p.Pro263Thr Single submitter ⚠
- p.Pro349Gln Single submitter ⚠
- p.Pro762Ser Single submitter ⚠
- p.Pro770Ser Single submitter ⚠
- p.Ser502Asn Single submitter ⚠
- p.Ser671Arg Single submitter ⚠
- p.Ser87Ala Single submitter ⚠
- p.Thr246Met Single submitter ⚠
- p.Thr336Ile Single submitter ⚠
- p.Thr376Ala Single submitter ⚠
- p.Thr376Ile Single submitter ⚠
- p.Val657Met Single submitter ⚠
- p.Val756Phe Single submitter ⚠