Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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(BRAF Leu597Val)
Short summary
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
Andreadi C, Cheung LK, Giblett S, Patel B, Jin H, Mercer K, Kamata T, Lee P, Williams A, McMahon M, Marais R, Pritchard C. The intermediate-activity L597VBRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. Genes Dev. 2012 Aug 14. [Epub ahead of print] PubMed PMID: 22892241.