A119E (p.Ala119Glu) variant of IL2RA (P01589)
A119E (p.Ala119Glu) in IL2RA (P01589) 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 0.07 / 1. The record also includes population frequency data and structural context.
A119E (p.Ala119Glu) variant details
- p.Ala119Glu
- cosmic curated COSV10722
- ESP rs138645280
- ExAC rs138645280
- gnomAD rs138645280
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.071
- REVEL 0.08
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available