G464V (p.Gly464Val) variant of BRAF (P15056)
G464V (p.Gly464Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome; not provided; 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.
G464V (p.Gly464Val) variant details
- p.Gly464Val
- rs121913348
- ClinGen CA135076
- NCI-TCGA Cosmic COSV5606
- cosmic curated COSV56066
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; not provided; 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/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; not provided; RASop)
- EBI: Pathogenic (in a colorectal cancer cell line)
- UniProt: Pathogenic (in a colorectal cancer cell line)
- Structural context available
- Cited in: Mutations of the BRAF gene in human cancer. (PMID 12068308)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)