E2E (p.Glu2Glu) variant of RAF1 (P04049)
E2E (p.Glu2Glu) in RAF1 (P04049) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- rs368925772
- gnomAD 14-20891752-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0847
- CADD 0.57
- Most common in the Ashkenazi Jewish population (allele frequency 0.0037)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.282
- Literature evidence available