E50V (p.Glu50Val) variant of IL1R1 (Interleukin-1 receptor type 1)
E50V (p.Glu50Val) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E50V (p.Glu50Val) variant details
- p.Glu50Val
- gnomAD 2-102164861-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.04
- CADD 15.40
- PolyPhen-2 0.53
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available