R42C (p.Arg42Cys) variant of IL1R1 (Interleukin-1 receptor type 1)
R42C (p.Arg42Cys) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R42C (p.Arg42Cys) variant details
- p.Arg42Cys
- rs867221636
- NCI-TCGA Cosmic COSV5210
- cosmic curated COSV52104
- TOPMed rs867221636
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.15
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available