A3D (p.Ala3Asp) variant of IL6R (P08887)
A3D (p.Ala3Asp) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 1-154405637-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.95
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available