KIR3DL3 R149S - GET-Evidence

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

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(KIR3DL3 Arg149Ser)

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

  • T @ chr19:55239168: 11.7% (1019/8744) in EVS
  • Frequency shown in summary reports: 11.7% (1019/8744)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr19:55239168


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr19:55239168


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr19:55239168


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr19:55239168


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr19:55239168


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr19:55239168


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr19:55239168


Other external references

  • rs62132665
    Web search results (3 hits -- see all)
  • Killer cell immunoglobulin-like receptor 3DL3 precursor ...
    ... KIR3DL3*00901, allele KIR3DL3*00902, allele KIR3DL3*010 and allele KIR3DL3*028. ... allele KIR3DL3*00601, allele KIR3DL3*00602, allele KIR3DL3*01101, allele KIR3DL3 ...
  • Supplementary Table xls.1
    rs11568489*R149S. rs11568491*V281A. rs11568520*F17L. rs11568525*P549S ... rs16985907*KIR3DL3 NM_153443 NP_703144*A348PQkiller cell immunoglobulin-like ...
  • UniProt: KI3L3_HUMAN
    FT VARIANT 149 149 R -> S (in allele KIR3DL3*00601, allele FT KIR3DL3*00602, allele KIR3DL3*01501 and FT allele KIR3DL3*01601; dbSNP:rs62132665). FT /FTId=VAR_060613. ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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