G5C (p.Gly5Cys) variant of IL6R (P08887)
G5C (p.Gly5Cys) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- gnomAD 1-154405642-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.13
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available