A7E (p.Ala7Glu) variant of IL6R (P08887)
A7E (p.Ala7Glu) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- gnomAD 1-154405649-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.84
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available