TBX22 E187K - GET-Evidence

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

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TBX22 E187K

(TBX22 Glu187Lys)

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 @ chrX:79281202: 4.6% (402/8761) in EVS
  • A @ chrX:79167857: 6.5% (6/92) in GET-Evidence
  • Frequency shown in summary reports: 4.6% (402/8761)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chrX:79281202



GS19669 - var-GS19669-1100-36-ASM
het A @ chrX:79167858


GS19704 - var-GS19704-1100-36-ASM
het A @ chrX:79167858


GS20509 - var-GS20509-1100-36-ASM
hom A @ chrX:79167858


Other external references

  • rs34244923
  • Score: 0.993 (probably damaging)
    Web search results (3 hits -- see all)
  • TBX22 Missense Mutations Found in Patients with X-Linked ...
    TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate ... As expected, wild-type TBX22 and the polymorphic E187K variant demonstrated similar repressor activity, ...
  • Cancer Genome Project Data
    p.E187K(1) Insertions. Position. Mutation(n) No Insertions in Current ... No Fusion Mutations in Current Selection. Other Mutations. Position. Mutation(n) No Other ...
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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