E59A (p.Glu59Ala) variant of BRAF (P15056)
E59A (p.Glu59Ala) in BRAF (P15056) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E59A (p.Glu59Ala) variant details
- p.Glu59Ala
- TOPMed rs1809007829
- gnomAD rs1809007829
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- MetaLR 0.26
- MetaSVM -0.67
- CADD 23.30
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.173