M125L (p.Met125Leu) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
M125L (p.Met125Leu) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M125L (p.Met125Leu) variant details
- p.Met125Leu
- gnomAD X-105233834-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.49
- MetaLR 0.38
- MetaSVM -0.52
- CADD 23.60
- PolyPhen-2 0.83
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available