A2E (p.Ala2Glu) variant of BRAF (P15056)
A2E (p.Ala2Glu) in BRAF (P15056) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD rs1471655119
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- MetaLR 0.14
- MetaSVM -0.88
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score 0.0323