G469V (p.Gly469Val) variant of BRAF (P15056)
G469V (p.Gly469Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Non-small cell lung carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
G469V (p.Gly469Val) variant details
- p.Gly469Val
- rs121913355
- ClinGen CA135085
- NCI-TCGA Cosmic COSV5606
- Pathogenic
- Non-small cell lung carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.61
- PolyPhen-2 0.98
- EVE 0.71
- MutPred 0.97
- ClinVar: Pathogenic (Non-small cell lung carcinoma)
- EBI: Pathogenic (in a colorectal adenocarcinoma sample)
- UniProt: Pathogenic (in a colorectal adenocarcinoma sample)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Guideline Recommendations for EGFR Mutation Testing in Lung Cancer: Proposal of the Korean Cardiopulmonary Pathology… (PMID 23667368)