PADI4 Y309C - 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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(PADI4 Tyr309Cys)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:01pm by Genome Importing Robot.

Added in this revision:

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 @ chr1:17668888: 0.8% (82/10758) in EVS
  • G @ chr1:17541474: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (82/10758)



Other external references

  • Score: 0.988 (probably damaging)
    Web search results (2 hits -- see all)
  • Type I- 97%
    ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 S232T 232 ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 ...
  • PADI4 Gene - GeneCards | PADI4 Protein | PADI4 Antibody
    EntrezGene summary for PADI4: This gene is a member of a gene family ... PADI4 Gene in genomic location: bands according to Ensembl, locations according ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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