K52N (p.Lys52Asn) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
K52N (p.Lys52Asn) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K52N (p.Lys52Asn) variant details
- p.Lys52Asn
- gnomAD X-105195548-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.59
- MetaLR 0.55
- MetaSVM -0.06
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available