E10K (p.Glu10Lys) variant of IL1B (Interleukin-1 beta)
E10K (p.Glu10Lys) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs376289593
- ClinGen CA1837409
- ClinVar RCV001355567
- 1000Genomes rs376289593
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.31
- MetaLR 0.30
- MetaSVM -0.70
- CADD 22.80
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available