E47D (p.Glu47Asp) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
E47D (p.Glu47Asp) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E47D (p.Glu47Asp) variant details
- p.Glu47Asp
- gnomAD X-105195533-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.73
- MetaLR 0.62
- MetaSVM 0.23
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available