APOC2 K77Q - 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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Curation:
Currentness:

APOC2 K77Q

(APOC2 Lys77Gln)


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 @ chr19:45452429: 0.7% (80/10758) in EVS
  • Frequency shown in summary reports: 0.7% (80/10758)

Publications
 

Genomes
 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr19:50144269

 

Other external references
 

    dbSNP
  • rs5126
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.975 (probably damaging)
    Web search results (3 hits -- see all)
  • BioPortfolio - apoc2
    Apoc2 Pages on BioPortfolio: BioPortfolio - APOE - apolipoprotein E ... Apolipoprotein C-II is a protein that in humans is encoded by the APOC2 gene. ...
    www.bioportfolio.com/search/apoc2.html
  • Table 1 Text
    ... 0.02 123 "by cluster,freq" 8p22 lipoprotein lipase 2 rs328 LPL 4023 8 19864004 ... 1458 0.14 123 "by cluster,freq" 8p22 lipoprotein lipase 3 rs328 LPL 4023 8 ...
    icr.ac.uk/research/research_sections/.../2841.txt
  • MAF
    APOC2. rs2288911 -42A>G. 0.497. rs5126. K77Q (A>C) ND. Apolipoprotein ... synonymous SNPs, the change in amino acid and codon position are provided along ...
    biomedcentral.com/.../supplementary/1471-2350-10-111-s1.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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