A8T (p.Ala8Thr) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
A8T (p.Ala8Thr) in IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- ExAC rs768588754
- gnomAD rs768588754
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.93
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available