L8V (p.Leu8Val) variant of IL6R (P08887)
L8V (p.Leu8Val) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD 1-154405651-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.10
- CADD 16.60
- PolyPhen-2 0.82
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available