A18V (p.Ala18Val) variant of IL6R (P08887)
A18V (p.Ala18Val) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 1-154405682-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -1.05
- CADD 1.57
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available