WNT10B P301S - 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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WNT10B P301S

(WNT10B Pro301Ser)

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

  • A @ chr12:49360147: 1.2% (124/10756) in EVS
  • Frequency shown in summary reports: 1.2% (124/10756)



Other external references

  • Score: 0.418 (possibly damaging)
    Web search results (7 hits -- see all)
  • WNT10B mutations in human obesity.
    2006 Apr;49(4):678-84. Epub 2006 Feb 14. WNT10B mutations in human obesity. ... determine whether mutations in WNT10B contribute to human obesity, we ...
  • roberto.vettor - Publications List
    publicationslist.org, roberto.vettor, online hosting of academic publications list, improve impact factor and citations, easier for people to cite your work
  • (txt)
    They are speculative and should be used for exploratory research purposes only. ... Nrp2,Plxna3,Ppp3ca,Prnp-MAPT*P301S,St8sia2,Tuba1a 84 abnormal hippocampus ...
  • WNT10B Gene - GeneCards | WN10B Protein | WN10B Antibody
    EntrezGene summary for WNT10B: The WNT gene family consists of structurally related genes ... WNT10B Gene in genomic location: bands according to Ensembl, ...
  • Springer Images
    Functional properties of wild-type, C256Y and P301S WNT10B in cultured 3T3-L1 cells. ... of wild-type, C256Y and P301S WNT10B on TOP-Flash reporter activity ...
  • Cerebrospinal fluid pressure in pyogenic meningitis.
    BioInfoBank Library :: Cerebrospinal fluid pressure in pyogenic meningitis. Discrepancies between brain CT imaging and severely raised intracranial pressure proven ...
  • Scarda, A (A)
    Scarda, A (A) :: Effects of ipriflavone on bone remodeling in primary hyperparathyroidism. Biochemical picture accompanying sclerotic bone metastases ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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