GRK5 Q41L - 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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(GRK5 Gln41Leu)

Short summary


Variant evidence
Computational 3

PolyPhen2: Benign, score 0.014
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 112.44; Class C65
Variant Effect Predictor (Ensembl):
Mutation Tasting Prediction: Polymorphism, P value: 0.068269; protein features (might be) affected (aa 1-185 REGION N-terminal gets lost)

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 @ chr10:121086097: 9.9% (1069/10758) in EVS
  • T @ chr10:121076086: 13.3% (17/128) in GET-Evidence
  • Frequency shown in summary reports: 9.9% (1069/10758)


Liggett SB, Cresci S, Kelly RJ, Syed FM, Matkovich SJ, Hahn HS, Diwan A, Martini JS, Sparks L, Parekh RR, Spertus JA, Koch WJ, Kardia SL, Dorn GW 2nd. A GRK5 polymorphism that inhibits beta-adrenergic receptor signaling is protective in heart failure. Nat Med. 2008 May;14(5):510-7. Epub 2008 Apr 20. PubMed PMID: 18425130; PubMed Central PMCID: PMC2596476.





huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr10:121086097


GS06985 - var-GS06985-1100-36-ASM
het T @ chr10:121076087


GS18501 - var-GS18501-1100-36-ASM
het T @ chr10:121076087


GS18502 - var-GS18502-1100-36-ASM
het T @ chr10:121076087


GS18504 - var-GS18504-1100-36-ASM
het T @ chr10:121076087


GS18505 - var-GS18505-1100-36-ASM
het T @ chr10:121076087


GS18508 - var-GS18508-1100-36-ASM
hom T @ chr10:121076087


GS18526 - var-GS18526-1100-36-ASM
het T @ chr10:121076087


GS19017 - var-GS19017-1100-36-ASM
het T @ chr10:121076087


GS19020 - var-GS19020-1100-36-ASM
het T @ chr10:121076087


GS19026 - var-GS19026-1100-36-ASM
het T @ chr10:121076087


GS19129 - var-GS19129-1100-36-ASM
het T @ chr10:121076087


GS19701 - var-GS19701-1100-36-ASM
het T @ chr10:121076087


GS19704 - var-GS19704-1100-36-ASM
het T @ chr10:121076087


GS19834 - var-GS19834-1100-36-ASM
het T @ chr10:121076087


Other external references

  • rs17098707
  • [Heart Failure]
    This variant, present in approximately 40% of African Americans, is a nonsynonymous polymorphism of GRK5 that encodes a G protein-coupled receptor kinase in which Leucine is substituted for Glutamine at amino acid position 41. African American subjects with this variant had a longer time to death or cardiac transplantation than those without it, indicating a protective effect of GRK5-Leu 41. In transgenic mice, human GRK5-Leu41 is protective against cardiomyopathy induced by exposure to excessive catecholamine levels. In vitro experiments demonstrate that GRK5-Leu enhances desensitization of catecholamine-stimulated human beta-adrenergic receptors.
  • Score: 0.016 (benign)

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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