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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PADI4 Y309C

(PADI4 Tyr309Cys)


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

  • 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)

Publications
 

Genomes
 

 

Other external references
 

    dbSNP
  • rs33981382
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • 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 ...
    genecards.org/cgi-bin/carddisp.pl?gene=PADI4&...&snp=224

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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