G40R (p.Gly40Arg) variant of IL6R (P08887)
G40R (p.Gly40Arg) 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.
G40R (p.Gly40Arg) variant details
- p.Gly40Arg
- gnomAD 1-154429228-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.35
- MetaLR 0.14
- MetaSVM -0.82
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available