ELAC2 P808A - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ELAC2 P808A

(ELAC2 Pro808Ala)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

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)

Publications
 

Genomes
 

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
 

    PolyPhen-2
  • 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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