I14V (p.Ile14Val) variant of IL2RA (P01589)
I14V (p.Ile14Val) 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 0.31 / 1. The record also includes structural context.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- rs781222262
- ClinGen CA375940422
- ClinVar RCV001902510
- ExAC rs781222262
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.27
- EVE 0.17
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available