L7R (p.Leu7Arg) variant of IL1R1 (Interleukin-1 receptor type 1)
L7R (p.Leu7Arg) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- TOPMed rs1376344625
- gnomAD rs1376344625
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.26
- CADD 22.50
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available