E24D (p.Glu24Asp) variant of BRAF (P15056)
E24D (p.Glu24Asp) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- rs587778114
- ClinGen CA157471
- ClinVar RCV000120256
- ClinVar RCV000680282
- Conflicting interpretations
- Cardiovascular phenotype; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- MetaLR 0.17
- MetaSVM -0.97
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.167
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)