R42S (p.Arg42Ser) variant of IL1R1 (Interleukin-1 receptor type 1)
R42S (p.Arg42Ser) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R42S (p.Arg42Ser) variant details
- p.Arg42Ser
- gnomAD 2-102164836-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.14
- CADD 16.50
- PolyPhen-2 0.43
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available