L8Q (p.Leu8Gln) variant of IL6R (P08887)
L8Q (p.Leu8Gln) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L8Q (p.Leu8Gln) variant details
- p.Leu8Gln
- gnomAD 1-154405652-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -1.13
- CADD 22.60
- PolyPhen-2 0.85
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available