S72C (p.Ser72Cys) variant of IL1R1 (Interleukin-1 receptor type 1)
S72C (p.Ser72Cys) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S72C (p.Ser72Cys) variant details
- p.Ser72Cys
- Ensembl rs1685040941
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.26
- CADD 12.60
- PolyPhen-2 0.27
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available