K54E (p.Lys54Glu) variant of IL18R1 (Interleukin-18 receptor 1)
K54E (p.Lys54Glu) in IL18R1 (Interleukin-18 receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
K54E (p.Lys54Glu) variant details
- p.Lys54Glu
- gnomAD rs1326301745
- Missense
- Variant Prioritization Score for Impact Estimate 0.0536
- REVEL 0.03
- CADD 5.10
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available