BRAF A246P - 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:

BRAF A246P

(BRAF Ala246Pro)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.932 (probably damaging)
    Web search results (3 hits -- see all)
  • Targeting the Raf-MEK-ERK mitogen-activated protein kinase ...
    Division of Pharmacotherapy and Experimental Therapeutics, Lineberger ... Department of Pharmacology, Lineberger Comprehensive Cancer Center, University of North ...
    www.d.umn.edu/~pschoff/documents/MAPKrev.pdf
  • OMIM
    Thyroid cancri con BRAF mutazione erano preferenzialmente sensibili to MEK inhibitors, ... in esone 6 della BRAF gene, predicendo un ala246-to-pro (A246P) aminoacidi cambiamenti. ...
    www.fonama.org/i_omim/1/i_164757.htm
  • Question 3856: Syndromes and Cardio-Facio-Cutaneous syndrome ...
    Consanguinity (related by common ancestor) and Degrees of Relation ... with a Braf mutation. My question is: a mutation at position G596V on the Braf gene ...
    genetics.emory.edu/ask/question.php/3856/Syndromes/1

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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