A12S (p.Ala12Ser) variant of IL1R1 (Interleukin-1 receptor type 1)
A12S (p.Ala12Ser) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- TOPMed rs1359694887
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.04
- CADD 16.80
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available