PCSK9 Q619P - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PCSK9 Q619P

(PCSK9 Gln619Pro)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

 

Allele frequency

  • C @ chr1:55527222: 0.4% (42/10718) in EVS
  • Frequency shown in summary reports: 0.4% (42/10718)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.024 (benign)
    Web search results (3 hits -- see all)
  • C H O R I
    The PCSK9 domain that is responsible for the inhibition on the apoE binding to ... interaction between LDLR and PCSK9: The ability of PCSK9 to interact with the ...
    www.chori.org/Centers/Obesity/yamamoto_research.html
  • PLoS ONE: Evidence for Positive Selection in the C-terminal ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... in the functional domains of PCSK9, an important regulator of cholesterol homeostasis. ...
    plosone.org/article/info:doi/10.1371/journal.pone.0001098
  • A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of ...
    The coding regions of PCSK9 were sequenced in the blacks and whites from the ... that PCSK9 activity is a major determinant of plasma levels of LDL-C ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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