T17R (p.Thr17Arg) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
T17R (p.Thr17Arg) 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 0.25 / 1. The record also includes population frequency data and structural context.
T17R (p.Thr17Arg) variant details
- p.Thr17Arg
- rs771962632
- ClinGen CA10480237
- ClinVar RCV004303118
- ExAC rs771962632
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.15
- MetaLR 0.01
- MetaSVM -0.78
- CADD 15.80
- PolyPhen-2 0.03
- SIFT 0.49
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available