AICDA F151S - 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:

AICDA F151S

(AICDA Phe151Ser)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (2 hits -- see all)
  • AICDAbase: Non-X-linked hyper-IgM syndrome | Public Database |
    ... xml/idr/ff/FF17.xml Gene AICDA Disease AID deficiency OMIM 605257 GDB 10796899 ... 24 Feature /change: R -> W Protein AICDA mutation Sex XX Ethnic origin Turkey ...
    bioinf.uta.fi/AICDAbase/index.php?content=pub/IDbases
  • The Bioinf Web Site Report for Year 2004
    xml/fetch.xml?gene=AICDA&view=brief&mut=R24W&ac=A0001+A0002+A0003+A0005. 32. 0.00% Nov. 18, ... xml/fetch.xml?gene=AICDA&view=brief&mut=F151S&ac=A0009+A0010 ...
    bioinf.uta.fi/wwwlog/2004/bioinf2004.html

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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