F583L (p.Phe583Leu) variant of BRAF (P15056)
F583L (p.Phe583Leu) 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 0.38 / 1. The record also includes published literature and structural context.
F583L (p.Phe583Leu) variant details
- p.Phe583Leu
- rs397507482
- ClinGen CA281989
- ClinVar RCV004515780
- Ensembl rs397507482
- Likely pathogenic
- Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 1.00
- MetaLR 0.09
- MetaSVM -0.84
- PolyPhen-2 0.44
- EVE 0.59
- MutPred 0.64
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)