IL17RA P562Q - GET-Evidence

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

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IL17RA P562Q

(IL17RA Pro562Gln)

You are viewing the latest version of this page, saved on November 29, 2012 at 6:52am by Genome Importing Robot.

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 @ chr22:17589794: 0.5% (58/10734) in EVS
  • A @ chr22:15969793: 5.1% (6/118) in GET-Evidence
  • Frequency shown in summary reports: 0.5% (58/10734)



Added in this revision:

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr22:17589794


GS18537 - var-GS18537-1100-36-ASM
het A @ chr22:15969794


GS18555 - var-GS18555-1100-36-ASM
hom A @ chr22:15969794


GS18558 - var-GS18558-1100-36-ASM
het A @ chr22:15969794


GS18940 - var-GS18940-1100-36-ASM
het A @ chr22:15969794


GS18942 - var-GS18942-1100-36-ASM
het A @ chr22:15969794


Other external references

  • rs12484684
  • Score: 0.998 (probably damaging)
    Web search results (4 hits -- see all)
  • Interleukin-17 receptor A precursor - Homo sapiens (Human)
    IL17RA. Synonyms: IL17R. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... P Q: dbSNP rs12484684. VAR_049176. Natural variant. 580. 1. R H: dbSNP rs17850765. Ref.4 ...
  • UniProt: I17RA_HUMAN
    AC Q96F46; O43844; Q20WK1; DT 02-MAY-2002, integrated into UniProtKB/Swiss-Prot. ... DE Flags: Precursor; GN Name=IL17RA; Synonyms=IL17R; OS Homo sapiens ...
  • UniProt: Q96F46
    AC Q96F46; O43844; Q20WK1; DT 02-MAY-2002, integrated into UniProtKB/Swiss-Prot. ... DR CTD; 23765; -. DR GeneCards; GC22P015947; -. DR HGNC; HGNC:5985; IL17RA. ...

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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