A119V (p.Ala119Val) variant of IL2RA (P01589)
A119V (p.Ala119Val) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency due to CD25 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A119V (p.Ala119Val) variant details
- p.Ala119Val
- rs138645280
- ClinGen CA5397488
- ClinVar RCV002761486
- ClinVar RCV005928478
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0617
- REVEL 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available