M39I (p.Met39Ile) variant of IL2RA (P01589)
M39I (p.Met39Ile) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; 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.
M39I (p.Met39Ile) variant details
- p.Met39Ile
- rs146345652
- ClinGen CA5397542
- ClinVar RCV001337173
- ClinVar RCV004035825
- Uncertain significance
- not specified; Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0613
- REVEL 0.06
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not specified; Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available