E79K (p.Glu79Lys) variant of IL1R1 (Interleukin-1 receptor type 1)
E79K (p.Glu79Lys) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E79K (p.Glu79Lys) variant details
- p.Glu79Lys
- 1000Genomes rs200321568
- ExAC rs200321568
- TOPMed rs200321568
- gnomAD rs200321568
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.24
- CADD 14.90
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available