Q31R (p.Gln31Arg) variant of IL1B (Interleukin-1 beta)
Q31R (p.Gln31Arg) in IL1B (Interleukin-1 beta) is a missense change. Clinical records from ClinVar, EBI, 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 0.22 / 1. The record also includes population frequency data and structural context.
Q31R (p.Gln31Arg) variant details
- p.Gln31Arg
- rs200223008
- ClinGen CA348289575
- ClinVar RCV004115704
- 1000Genomes rs200223008
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.11
- MetaLR 0.16
- MetaSVM -0.99
- CADD 22.40
- PolyPhen-2 0.62
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available