STK17A E126D - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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STK17A E126D

(STK17A Glu126Asp)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chr7:43635671: 0.0% (2/10758) in EVS
  • Frequency shown in summary reports: 0.0% (2/10758)




Other external references

  • rs56286238
    Web search results (4 hits -- see all)
  • Serine/threonine-protein kinase 17A - Homo sapiens (Human)
    STK17A. Synonyms: DRAK1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... E D: dbSNP rs56286238. Ref.7. VAR_041145. Natural variant. 167. 1. M T: ...
  • UniProt: Q9UEE5
    DT 01-MAY-2000, sequence version 1. DT 02-MAR-2010, entry version 93. DE RecName: ... protein kinase 1; GN Name=STK17A; Synonyms=DRAK1; OS Homo sapiens ...

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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