ALPK2 R1884C - GET-Evidence

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

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ALPK2 R1884C

(ALPK2 Arg1884Cys)

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

  • A @ chr18:56191053: 3.9% (417/10758) in EVS
  • A @ chr18:54342032: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (417/10758)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr18:56191053


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr18:56191053




hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr18:56191053


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr18:56191053


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom A @ chr18:56191053


Other external references

  • rs33969768
  • Score: 0.699 (possibly damaging)
    Web search results (3 hits -- see all)
  • Alpha-protein kinase 2 - Homo sapiens (Human)
    ALPK2. Synonyms: HAK. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... R C: dbSNP rs33969768. VAR_057742. Natural variant. 1969. 1. E K: dbSNP rs17065127. ...
  • ALPK2 Gene - GeneCards | ALPK2 Protein | ALPK2 Antibody
    ALPK2 Gene in genomic location: bands according to Ensembl, locations ... RNAi Products for Gene knock-down (ALPK2) OriGene 29mer shRNA kit in GFP-retroviral ...
  • UniProt: Q86TB3
    DT 14-APR-2009, sequence version 3. DT 20-APR-2010, entry version 57. ... Heart alpha-protein kinase; GN Name=ALPK2; Synonyms=HAK; OS Homo sapiens (Human) ...

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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