E27D (p.Glu27Asp) variant of IL1R1 (Interleukin-1 receptor type 1)
E27D (p.Glu27Asp) in IL1R1 (Interleukin-1 receptor type 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 0.11 / 1. The record also includes population frequency data and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- rs113620360
- ClinGen CA1808113
- ClinVar RCV004253981
- ESP rs113620360
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.02
- CADD 14.30
- PolyPhen-2 0.02
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available