G46E (p.Gly46Glu) variant of IL1RAPL1 (Q9NZN1)
G46E (p.Gly46Glu) 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 0.82 / 1. The record also includes population frequency data and structural context.
G46E (p.Gly46Glu) variant details
- p.Gly46Glu
- rs1293643963
- ClinVar RCV004593476
- gnomAD rs1293643963
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.90
- CADD 25.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available