V116A (p.Val116Ala) variant of IL2RA (P01589)
V116A (p.Val116Ala) 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 0.04 / 1. The record also includes population frequency data and structural context.
V116A (p.Val116Ala) variant details
- p.Val116Ala
- rs74162095
- ClinGen CA202295605
- ClinVar RCV001218513
- TOPMed rs74162095
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0354
- REVEL 0.01
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-05)
- Structural context available