E28V (p.Glu28Val) variant of IL1R1 (Interleukin-1 receptor type 1)
E28V (p.Glu28Val) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E28V (p.Glu28Val) variant details
- p.Glu28Val
- ExAC rs754771479
- gnomAD rs754771479
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.07
- CADD 11.50
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available