G93R (p.Gly93Arg) variant of IL1RAPL1 (Q9NZN1)
G93R (p.Gly93Arg) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G93R (p.Gly93Arg) variant details
- p.Gly93Arg
- TOPMed rs865917918
- gnomAD rs865917918
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.41
- CADD 26.80
- PolyPhen-2 0.91
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available