E89V (p.Glu89Val) variant of IL1R1 (Interleukin-1 receptor type 1)
E89V (p.Glu89Val) in IL1R1 (Interleukin-1 receptor type 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E89V (p.Glu89Val) variant details
- p.Glu89Val
- gnomAD 2-102164976-G-GGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 28.40
- Population evidence available
- Structural context available
- Literature evidence available