C47G (p.Cys47Gly) variant of IL6R (P08887)
C47G (p.Cys47Gly) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C47G (p.Cys47Gly) variant details
- p.Cys47Gly
- gnomAD 1-154429249-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.81
- MetaLR 0.89
- MetaSVM 0.98
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available