C44R (p.Cys44Arg) variant of IL1R1 (Interleukin-1 receptor type 1)
C44R (p.Cys44Arg) 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 0.47 / 1. The record also includes population frequency data and structural context.
C44R (p.Cys44Arg) variant details
- p.Cys44Arg
- rs1198478724
- gnomAD rs1198478724
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.79
- MetaLR 0.30
- MetaSVM -0.35
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available