E34K (p.Glu34Lys) variant of IL18R1 (Interleukin-18 receptor 1)
E34K (p.Glu34Lys) in IL18R1 (Interleukin-18 receptor 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 0.46 / 1. The record also includes population frequency data and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- rs1223706178
- cosmic curated COSV10723
- TOPMed rs1223706178
- gnomAD rs1223706178
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.22
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available