A3V (p.Ala3Val) variant of IL6R (P08887)
A3V (p.Ala3Val) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 1-154405637-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.12
- CADD 23.90
- PolyPhen-2 0.82
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available