E501V (p.Glu501Val) variant of BRAF (P15056)
E501V (p.Glu501Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardio-facio-cutaneous syndrome; RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
E501V (p.Glu501Val) variant details
- p.Glu501Val
- rs180177039
- ClinGen CA280013
- ClinVar RCV000033318
- ClinVar RCV000037924
- Pathogenic/Likely pathogenic
- Cardio-facio-cutaneous syndrome; RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 1.00
- MetaLR 0.61
- MetaSVM 0.49
- PolyPhen-2 1.00
- EVE 0.70
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; RASopathy; not provided)
- 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)