FAM83E P311L - 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:

FAM83E P311L

(FAM83E Pro311Leu)


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 @ chr19:49106995: 9.8% (863/8796) in EVS
  • A @ chr19:53798806: 14.0% (12/86) in GET-Evidence
  • Frequency shown in summary reports: 9.8% (863/8796)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr19:49106995

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr19:49106995

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het A @ chr19:49106995

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr19:49106995

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr19:49106995

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr19:49106995

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr19:49106995

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr19:49106995

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr19:49106995

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr19:49106995

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr19:49106995

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr19:53798807

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr19:53798807

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr19:53798807

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr19:53798807

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr19:53798807

 

GS19648 - var-GS19648-1100-36-ASM
hom A @ chr19:53798807

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr19:53798807

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr19:53798807

 

Other external references
 

    dbSNP
  • rs3745728
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.996 (probably damaging)
    Web search results (8 hits -- see all)
  • Protein FAM83E - Homo sapiens (Human)
    sp|Q2M2I3|FA83E_HUMAN Protein FAM83E OS=Homo sapiens GN=FAM83E PE=2 SV=1 ... Protein FAM83E. PRO_0000314929. Natural variations. Natural variant. 91. 1 ...
    www.uniprot.org/uniprot/Q2M2I3
  • Type III 98%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Kinase group ... 909) Polymorphism (dbSNP:rs2270515) FAM83E Q2M2I3 P311L 310 VAR_038131 AGC (0. ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_98.txt
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: FAM83E ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    mutdb.org/cgi-bin/mutdb.pl?id=FAM83E&geneid=54854

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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