P48L (p.Pro48Leu) variant of IL1R1 (Interleukin-1 receptor type 1)
P48L (p.Pro48Leu) in IL1R1 (Interleukin-1 receptor type 1) is a missense change. 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.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- TOPMed rs1685035386
- Missense
- Variant Prioritization Score for Impact Estimate 0.0879
- REVEL 0.08
- CADD 2.96
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available