R80Q (p.Arg80Gln) variant of IL18 (Interleukin-18)
R80Q (p.Arg80Gln) in IL18 (Interleukin-18) 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 0.07 / 1. The record also includes population frequency data and structural context.
R80Q (p.Arg80Gln) variant details
- p.Arg80Gln
- rs768843343
- NCI-TCGA Cosmic COSV1043
- cosmic curated COSV10438
- ExAC rs768843343
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0702
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.94
- CADD 0.68
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 9.4e-05)
- Structural context available