A8V (p.Ala8Val) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
A8V (p.Ala8Val) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- gnomAD X-104658936-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.91
- CADD 6.44
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available