E13D (p.Glu13Asp) variant of BRAF (P15056)
E13D (p.Glu13Asp) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiofaciocutaneous syndrome 1; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- rs868441785
- ClinGen CA168218650
- ClinVar RCV000692616
- ClinVar RCV001174649
- Uncertain significance
- RASopathy; Cardiofaciocutaneous syndrome 1; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- MetaLR 0.17
- MetaSVM -0.89
- CADD 20.30
- PolyPhen-2 0.14
- SIFT 0.11
- ClinVar: Uncertain significance (RASopathy; Cardiofaciocutaneous syndrome 1; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0899
- 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)