G466R (p.Gly466Arg) variant of BRAF (P15056)
G466R (p.Gly466Arg) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vascular malformation; BRAF-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G466R (p.Gly466Arg) variant details
- p.Gly466Arg
- rs121913353
- ClinGen CA135079
- NCI-TCGA Cosmic COSV5606
- NCI-TCGA Cosmic COSV5609
- Pathogenic
- Vascular malformation; BRAF-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- EVE 0.70
- MutPred 0.94
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in LNCR)
- UniProt: Pathogenic (in LNCR)
- Population evidence available
- 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)