V600M (p.Val600Met) variant of BRAF (P15056)
V600M (p.Val600Met) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Non-small cell lung carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
V600M (p.Val600Met) variant details
- p.Val600Met
- rs121913378
- ClinGen CA135101
- NCI-TCGA Cosmic COSV5606
- NCI-TCGA Cosmic COSV5607
- Likely pathogenic
- Non-small cell lung carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.93
- MetaLR 0.38
- MetaSVM -0.47
- PolyPhen-2 0.04
- EVE 0.52
- MutPred 0.49
- ClinVar: Likely pathogenic (Non-small cell lung carcinoma)
- EBI: Pathogenic (in CRC)
- UniProt: Pathogenic (in CRC)
- Structural context available
- Cited in: Guideline Recommendations for EGFR Mutation Testing in Lung Cancer: Proposal of the Korean Cardiopulmonary Pathology… (PMID 23667368)
- Cited in: Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean… (PMID 24627688)