L2Q (p.Leu2Gln) variant of IL6R (P08887)
L2Q (p.Leu2Gln) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L2Q (p.Leu2Gln) variant details
- p.Leu2Gln
- gnomAD 1-154405634-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.09
- CADD 24.50
- PolyPhen-2 0.96
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available