E29K (p.Glu29Lys) variant of IL6R (P08887)
E29K (p.Glu29Lys) 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.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- gnomAD 1-154405714-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.10
- CADD 26.00
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available