G40E (p.Gly40Glu) variant of IL6R (P08887)
G40E (p.Gly40Glu) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- gnomAD 1-154429229-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.35
- MetaLR 0.12
- MetaSVM -0.90
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available