R25C (p.Arg25Cys) variant of IL18R1 (Interleukin-18 receptor 1)
R25C (p.Arg25Cys) in IL18R1 (Interleukin-18 receptor 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 0.36 / 1. The record also includes population frequency data and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- rs764548979
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99294
- ExAC rs764548979
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.22
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available