A117S (p.Ala117Ser) variant of IL1RAPL1 (Q9NZN1)
A117S (p.Ala117Ser) in IL1RAPL1 (Q9NZN1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A117S (p.Ala117Ser) variant details
- p.Ala117Ser
- ExAC rs778199033
- TOPMed rs778199033
- gnomAD rs778199033
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.26
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available