R63Q (p.Arg63Gln) variant of IL18 (Interleukin-18)
R63Q (p.Arg63Gln) in IL18 (Interleukin-18) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
R63Q (p.Arg63Gln) variant details
- p.Arg63Gln
- 1000Genomes rs183932139
- ExAC rs183932139
- TOPMed rs183932139
- gnomAD rs183932139
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0595
- REVEL 0.00
- MetaLR 0.01
- MetaSVM -1.01
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available