L485W (p.Leu485Trp) variant of BRAF (P15056)
L485W (p.Leu485Trp) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiofaciocutaneous syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
L485W (p.Leu485Trp) variant details
- p.Leu485Trp
- rs397507475
- ClinGen CA369588478
- cosmic curated COSV56190
- ClinVar RCV001785377
- Pathogenic
- Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- AlphaMissense 1.00
- MetaLR 0.39
- MetaSVM -0.23
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Cardiofaciocutaneous syndrome 1)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- 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)