A14D (p.Ala14Asp) variant of IL6R (P08887)
A14D (p.Ala14Asp) 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.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD 1-154405670-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.08
- CADD 18.00
- PolyPhen-2 0.44
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available