G46S (p.Gly46Ser) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
G46S (p.Gly46Ser) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- gnomAD X-105195528-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.80
- MetaLR 0.79
- MetaSVM 0.71
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available