P48R (p.Pro48Arg) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
P48R (p.Pro48Arg) in IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- gnomAD X-105195535-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.88
- MetaLR 0.68
- MetaSVM 0.51
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available