V11G (p.Val11Gly) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
V11G (p.Val11Gly) in IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
V11G (p.Val11Gly) variant details
- p.Val11Gly
- ESP rs142515452
- ExAC rs142515452
- TOPMed rs142515452
- gnomAD rs142515452
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.14
- MetaLR 0.01
- MetaSVM -0.69
- CADD 21.60
- PolyPhen-2 0.18
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available