R42H (p.Arg42His) variant of IL1R1 (Interleukin-1 receptor type 1)
R42H (p.Arg42His) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R42H (p.Arg42His) variant details
- p.Arg42His
- cosmic curated COSV52107
- gnomAD rs1221699681
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.11
- CADD 15.60
- PolyPhen-2 0.12
- SIFT 0.13
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available