ELAC2 P808A - GET-Evidence

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

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(ELAC2 Pro808Ala)

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

  • GGC @ chr17:12836916: 6.2% (5/80) in GET-Evidence
  • Frequency shown in summary reports: 6.2% (5/80)



hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het GGC @ chr17:12896192


hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het GGC @ chr17:12896192


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het GGC @ chr17:12896192


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het GGC @ chr17:12896192


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het GGC @ chr17:12896192


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het GGC @ chr17:12896192


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het GGC @ chr17:12896192


GS18526 - var-GS18526-1100-36-ASM
het GGC @ chr17:12836917


GS18558 - var-GS18558-1100-36-ASM
het GGC @ chr17:12836917


GS18940 - var-GS18940-1100-36-ASM
het GGC @ chr17:12836917


GS20502 - var-GS20502-1100-36-ASM
het GGC @ chr17:12836917


Other external references

  • Score: 0.615 (possibly damaging)

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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