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.
Please help improve GET-Evidence by evaluating evidence for this variant!
(GRK5 Gln41Leu)
Short summary
PolyPhen2: Benign, score 0.014 SIFT: Affect protein function 0.00 GVGD: GV 0.00; GD 112.44; Class C65 Variant Effect Predictor (Ensembl): SIFT=tolerated(0.07); PolyPhen=benign(0.014); Condel=deleterious(0.839) Mutation Tasting Prediction: Polymorphism, P value: 0.068269; protein features (might be) affected (aa 1-185 REGION N-terminal gets lost)
Impact
Insufficiently evaluated pharmacogenetic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Inheritance pattern
unknown
Summary of published research, and additional commentary
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.
hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants het T @ chr10:121076087
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants het T @ chr10:121076087
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