N120K (p.Asn120Lys) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
N120K (p.Asn120Lys) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
N120K (p.Asn120Lys) variant details
- p.Asn120Lys
- gnomAD X-105233821-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.78
- MetaLR 0.72
- MetaSVM 0.58
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available