E2K (p.Glu2Lys) variant of RAF1 (P04049)
E2K (p.Glu2Lys) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs747737990
- gnomAD 14-20891750-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.92
- CADD 8.04
- PolyPhen-2 0.05
- SIFT 0.68
- Most common in the South Asian population (allele frequency 0.00038)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.282
- Literature evidence available