PSG8 S375P - 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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PSG8 S375P

(PSG8 Ser375Pro)

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 @ chr19:43258605: 0.4% (47/10756) in EVS
  • G @ chr19:47950444: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.4% (47/10756)



GS07357 - var-GS07357-1100-36-ASM
het G @ chr19:47950445


GS18558 - var-GS18558-1100-36-ASM
het G @ chr19:47950445


Other external references

  • rs1058779
  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • PSG8 Gene - GeneCards | PSG8 Protein | PSG8 Antibody
    EntrezGene summary for PSG8: The human pregnancy-specific glycoproteins (PSGs) are a ... PSG8 Gene in genomic location: bands according to Ensembl, locations ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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