BRAF A246P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(BRAF Ala246Pro)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



Other external references

  • 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 ...
  • 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. ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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