T54L (p.Thr54Leu) variant of IL1R1 (Interleukin-1 receptor type 1)
T54L (p.Thr54Leu) in IL1R1 (Interleukin-1 receptor type 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T54L (p.Thr54Leu) variant details
- p.Thr54Leu
- rs1559501396
- gnomAD 2-102164870-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available