LRP8 R952Q - 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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LRP8 R952Q

(LRP8 Arg952Gln)

Short summary


Variant evidence
Computational 3

PolyPhen2: Probably damaging 0.966
SIFT: Affect protein function 0.00
GVGD: Class C35

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(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 @ chr1:53712727: 29.0% (3121/10758) in EVS
  • T @ chr1:53485314: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 29.0% (3121/10758)


Shen GQ, Li L, Girelli D, Seidelmann SB, Rao S, Fan C, Park JE, Xi Q, Li J, Hu Y, Olivieri O, Marchant K, Barnard J, Corrocher R, Elston R, Cassano J, Henderson S, Hazen SL, Plow EF, Topol EJ, Wang QK. An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction. Am J Hum Genet. 2007 Oct;81(4):780-91. Epub 2007 Aug 31. PubMed PMID: 17847002; PubMed Central PMCID: PMC2227927.


Lieb W, Zeller T, Mangino M, Götz A, Braund P, Wenzel JJ, Horn C, Proust C, Linsel-Nitschke P, Amouyel P, Bruse P, Arveiler D, König IR, Ferrières J, Ziegler A, Balmforth AJ, Evans A, Ducimetière P, Cambien F, Hengstenberg C, Stark K, Hall AS, Schunkert H, Blankenberg S, Samani NJ, Erdmann J, Tiret L. Lack of association of genetic variants in the LRP8 gene with familial and sporadic myocardial infarction. J Mol Med. 2008 Oct;86(10):1163-70. Epub 2008 Jul 1. PubMed PMID: 18592168.





hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr1:53712727


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr1:53712727


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr1:53712727



















huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr1:53712727


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr1:53712727


huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr1:53712727




GS06985 - var-GS06985-1100-36-ASM
hom T @ chr1:53485315


GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:53485315


GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:53485315


GS19648 - var-GS19648-1100-36-ASM
het T @ chr1:53485315


GS19649 - var-GS19649-1100-36-ASM
het T @ chr1:53485315


GS19703 - var-GS19703-1100-36-ASM
het T @ chr1:53485315


Other external references

  • rs5174
  • [Coronary Artery Disease; Myocardial Infarction]
    In GWAS of white cohorts, rs5174 was found to be significantly associated with premature and familial Coronary Arteriosclerosis and Myocardial Infarction but not with sporadic and late-onset forms of the diseases.

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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