G61V (p.Gly61Val) variant of IL2RA (P01589)
G61V (p.Gly61Val) 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 0.44 / 1. The record also includes structural context.
G61V (p.Gly61Val) variant details
- p.Gly61Val
- rs1589295770
- ClinGen CA375930391
- cosmic curated COSV56923
- ClinVar RCV000807888
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.36
- MetaLR 0.24
- MetaSVM -0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available