E20K (p.Glu20Lys) variant of IL18R1 (Interleukin-18 receptor 1)
E20K (p.Glu20Lys) in IL18R1 (Interleukin-18 receptor 1) 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 and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- ExAC rs749670362
- gnomAD rs749670362
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.02
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.44
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available