E38A (p.Glu38Ala) variant of IL1R1 (Interleukin-1 receptor type 1)
E38A (p.Glu38Ala) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E38A (p.Glu38Ala) variant details
- p.Glu38Ala
- ExAC rs772861436
- TOPMed rs772861436
- gnomAD rs772861436
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.16
- CADD 24.40
- PolyPhen-2 0.88
- SIFT 0.12
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available