G596V (p.Gly596Val) variant of BRAF (P15056)
G596V (p.Gly596Val) 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 0.76 / 1. The record also includes published literature and structural context.
G596V (p.Gly596Val) variant details
- p.Gly596Val
- rs397507483
- ClinGen CA220161
- NCI-TCGA Cosmic COSV5610
- NCI-TCGA Cosmic COSV9995
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.64
- PolyPhen-2 1.00
- EVE 0.72
- MutPred 0.99
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. (PMID 16439621)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)