G464A (p.Gly464Ala) variant of BRAF (P15056)
G464A (p.Gly464Ala) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiofaciocutaneous syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
G464A (p.Gly464Ala) variant details
- p.Gly464Ala
- rs121913348
- ClinGen CA281965
- ClinVar RCV000824917
- ClinVar RCV001807745
- Likely pathogenic
- Cardiofaciocutaneous syndrome 1
- 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: Likely pathogenic (Cardiofaciocutaneous syndrome 1)
- EBI: Pathogenic (in a colorectal cancer cell line)
- UniProt: Pathogenic (in a colorectal cancer cell line)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)