R51Q (p.Arg51Gln) variant of IL1B (Interleukin-1 beta)
R51Q (p.Arg51Gln) in IL1B (Interleukin-1 beta) 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 0.22 / 1. The record also includes population frequency data and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs775562734
- NCI-TCGA Cosmic COSV5452
- ExAC rs775562734
- TOPMed rs775562734
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.98
- CADD 1.97
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available