R50Q (p.Arg50Gln) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
R50Q (p.Arg50Gln) 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 0.62 / 1. The record also includes population frequency data and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- NCI-TCGA Cosmic COSV6115
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.59
- MetaLR 0.61
- MetaSVM 0.12
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available