SNRK P391S - GET-Evidence

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

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(SNRK Pro391Ser)

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

  • T @ chr3:43388922: 0.9% (93/10220) in EVS
  • Frequency shown in summary reports: 0.9% (93/10220)



Other external references

  • Score: 0.999 (probably damaging)
    Web search results (2 hits -- see all)
  • SNF-related serine/threonine-protein kinase - Homo sapiens (Human)
    SNRK. Synonyms: KIAA0096, SNFRK. Organism. Homo sapiens (Human) [Complete proteome] ... of the sucrose non-fermenting related kinase SNRK, as a novel LKB1 substrate. ...
  • UniProt: Q9NRH2
    ... characterization of human and mouse SNRK sucrose non- RT fermenting protein (SNF ... of the sucrose non-fermenting related kinase SNRK, as RT a novel LKB1 substrate. ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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