PCSK1 R80Q - 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:

PCSK1 R80Q

(PCSK1 Arg80Gln)


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

  • None available.

Publications
 

Genomes
 

 

Other external references
 

    dbSNP
  • rs1799904
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the PCSK1 gene
    Monogenic Non-Syndromic Obesity, Autosomal Recessive
    Proprotein Convertase-1 Deficiency
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCSK1
    PolyPhen-2
  • Score: 0.13 (benign)
    Web search results (3 hits -- see all)
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 ... GRIK1 P39086 R862Q 861 VAR_012752 PKC (0.894) PIKK (0.970) 11702055 PCSK1. P29120 R80Q 79 VAR_013906 PKA (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt
  • Type II- 95%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... phosphorylation site ENPEP Q07075 R213Q 216 VAR_030359 AGC (0.891) PKA (0.932) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in