E28K (p.Glu28Lys) variant of IL1R1 (Interleukin-1 receptor type 1)
E28K (p.Glu28Lys) in IL1R1 (Interleukin-1 receptor type 1) 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 0.19 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- NCI-TCGA Cosmic COSV5210
- cosmic curated COSV52105
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.13
- CADD 13.40
- PolyPhen-2 0.04
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available