Y64C (p.Tyr64Cys) variant of IL1RAPL2 (X-linked interleukin-1 receptor accessory protein-like 2)
Y64C (p.Tyr64Cys) 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 0.66 / 1. The record also includes population frequency data and structural context.
Y64C (p.Tyr64Cys) variant details
- p.Tyr64Cys
- TOPMed rs2033666512
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.73
- MetaLR 0.62
- MetaSVM 0.32
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available