E48D (p.Glu48Asp) variant of IL18R1 (Interleukin-18 receptor 1)
E48D (p.Glu48Asp) in IL18R1 (Interleukin-18 receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- TOPMed rs1171545140
- cosmic curated COSV99295
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.094
- REVEL 0.01
- CADD 3.30
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available