S69I (p.Ser69Ile) variant of IL1RAPL1 (Q9NZN1)
S69I (p.Ser69Ile) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S69I (p.Ser69Ile) variant details
- p.Ser69Ile
- ExAC rs747458852
- TOPMed rs747458852
- gnomAD rs747458852
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.44
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available