P130Q (p.Pro130Gln) variant of IL2RA (P01589)
P130Q (p.Pro130Gln) 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 0.41 / 1. The record also includes structural context.
P130Q (p.Pro130Gln) variant details
- p.Pro130Gln
- rs1401837237
- ClinGen CA375926913
- ClinVar RCV003031492
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.08
- MetaLR 0.25
- MetaSVM -0.78
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.48
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available