D565E (p.Asp565Glu) variant of BRAF (P15056)
D565E (p.Asp565Glu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy; Cardiofaciocutaneous syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
D565E (p.Asp565Glu) variant details
- p.Asp565Glu
- rs397507480
- ClinGen CA369544012
- ClinVar RCV003540440
- ClinVar RCV005256923
- Likely pathogenic
- RASopathy; Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.97
- MetaLR 0.08
- MetaSVM -1.06
- PolyPhen-2 0.01
- MutPred 0.81
- ClinVar: Likely pathogenic (RASopathy; Cardiofaciocutaneous syndrome 1)
- EBI: Pathogenic
- UniProt: 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)