E26D (p.Glu26Asp) variant of BRAF (P15056)
E26D (p.Glu26Asp) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- rs371877084
- ClinGen CA135143
- cosmic curated COSV56062
- ClinVar RCV000033269
- Benign/Likely benign
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- MetaLR 0.10
- MetaSVM -0.88
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Benign/Likely benign (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.035
- 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)