KIAA0556 R885Q - GET-Evidence

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

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KIAA0556 R885Q

(KIAA0556 Arg885Gln)

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 @ chr16:27760935: 1.7% (178/10758) in EVS
  • A @ chr16:27668435: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.7% (178/10758)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr16:27760935


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr16:27760935


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr16:27760935


GS19834 - var-GS19834-1100-36-ASM
het A @ chr16:27668436


Other external references

  • rs16976970
  • Score: 0.97 (probably damaging)
    Web search results (3 hits -- see all)
  • KIAA0556 Gene - GeneCards | K0556 Protein | K0556 Antibody
    KIAA0556 Gene in genomic location: bands according to Ensembl, locations according to ... KIAA0556 for ontologies About GeneDecksing. Antibodies for KIAA0556: ...
  • Uncharacterized protein KIAA0556 - Homo sapiens (Human)
    ... K0556_HUMAN Uncharacterized protein KIAA0556 OS=Homo sapiens GN=KIAA0556 PE=1 SV=4 ... Uncharacterized protein KIAA0556. Gene names. Name: KIAA0556. Organism. Homo sapiens (Human) ...
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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