P48L (p.Pro48Leu) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
P48L (p.Pro48Leu) 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 0.77 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- 1000Genomes rs782144125
- ExAC rs782144125
- gnomAD rs782144125
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.85
- MetaLR 0.68
- MetaSVM 0.50
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available