LILRB3 R465L - 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.

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(LILRB3 Arg465Leu)

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 @ chr19:54723030: 4.5% (488/10758) in EVS
  • GA @ chr19:59414840: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (488/10758)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het GA @ chr19:54723029


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het GA @ chr19:54723029


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het GA @ chr19:54723029


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het GA @ chr19:54723029


huC30901 - CGI sample GS00253-DNA_B01_200_37
het GA @ chr19:54723029


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het GA @ chr19:54723029


GS06994 - var-GS06994-1100-36-ASM
het GA @ chr19:59414841


GS12004 - var-GS12004-1100-36-ASM
het GA @ chr19:59414841


Other external references

  • rs61734492
  • Score: 0.998 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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