PRSS21 R264Q - 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:

PRSS21 R264Q

(PRSS21 Arg264Gln)


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

  • A @ chr16:2871452: 0.1% (12/10758) in EVS
  • A @ chr16:2811452: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (12/10758)

Publications
 

Genomes
 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr16:2811453

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr16:2811453

 

Other external references
 

    dbSNP
  • rs2072273
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.964 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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