H27R (p.His27Arg) variant of IL18R1 (Interleukin-18 receptor 1)
H27R (p.His27Arg) in IL18R1 (Interleukin-18 receptor 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
H27R (p.His27Arg) variant details
- p.His27Arg
- cosmic curated COSV10802
- gnomAD rs1304101284
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0395
- REVEL 0.02
- CADD 0.43
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available