R50L (p.Arg50Leu) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
R50L (p.Arg50Leu) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R50L (p.Arg50Leu) variant details
- p.Arg50Leu
- gnomAD X-105195541-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.63
- MetaLR 0.59
- MetaSVM -0.01
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available