PRG3 Y146H - 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!


PRG3 Y146H

(PRG3 Tyr146His)

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr11:57146225: 5.5% (595/10758) in EVS
  • G @ chr11:56902800: 3.4% (4/118) in GET-Evidence
  • Frequency shown in summary reports: 5.5% (595/10758)



hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr11:57146225


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr11:57146225


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr11:57146225


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr11:57146225


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr11:57146225


GS19648 - var-GS19648-1100-36-ASM
het G @ chr11:56902801


GS20509 - var-GS20509-1100-36-ASM
het G @ chr11:56902801


Other external references

  • rs34108746
  • Score: 0.277 (possibly damaging)
    Web search results (1 hit -- see all)
  • PRG3 Gene - GeneCards | PRG3 Protein | PRG3 Antibody
    PRG3 Gene in genomic location: bands according to Ensembl, locations according to (and/or ... Monoclonal and Polyclonal Antibodies from Abnova (PRG3) ...

Other in silico analyses

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

Log in