G464E (p.Gly464Glu) variant of BRAF (P15056)
G464E (p.Gly464Glu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
G464E (p.Gly464Glu) variant details
- p.Gly464Glu
- rs121913348
- ClinGen CA250636
- NCI-TCGA Cosmic COSV5606
- NCI-TCGA Cosmic COSV5607
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.79
- PolyPhen-2 0.85
- EVE 0.72
- MutPred 0.97
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in CRC)
- UniProt: Pathogenic (in CRC)
- Structural context available
- Cited in: Mutations of the BRAF gene in human cancer. (PMID 12068308)
- Cited in: Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. (PMID 12198537)