Q31L (p.Gln31Leu) variant of IL1B (Interleukin-1 beta)
Q31L (p.Gln31Leu) in IL1B (Interleukin-1 beta) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q31L (p.Gln31Leu) variant details
- p.Gln31Leu
- 1000Genomes rs200223008
- ExAC rs200223008
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.99
- CADD 22.50
- PolyPhen-2 0.62
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available