A43V (p.Ala43Val) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
A43V (p.Ala43Val) in IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- rs1556140350
- TOPMed rs1556140350
- gnomAD rs1556140350
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.20
- MetaLR 0.10
- MetaSVM -0.84
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available