IL17RA P562Q - 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:

IL17RA P562Q

(IL17RA Pro562Gln)


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

  • 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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs12484684
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.uniprot.org/uniprot/Q96F46
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?uniprot:I17RA_HUMAN
  • 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. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q96F46

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in