E24A (p.Glu24Ala) variant of BRAF (P15056)
E24A (p.Glu24Ala) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E24A (p.Glu24Ala) variant details
- p.Glu24Ala
- rs1586674580
- ClinGen CA369590155
- ClinVar RCV003069245
- Ensembl rs1586674580
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- MetaLR 0.24
- MetaSVM -0.82
- CADD 22.80
- PolyPhen-2 0.22
- SIFT 0.04
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.167