L12P (p.Leu12Pro) variant of IL6R (P08887)
L12P (p.Leu12Pro) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- gnomAD 1-154405664-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.21
- MetaLR 0.07
- MetaSVM -1.10
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available