D134G (p.Asp134Gly) variant of IL2RG (P31785)
D134G (p.Asp134Gly) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
D134G (p.Asp134Gly) variant details
- p.Asp134Gly
- rs2147750229
- ClinGen CA413496637
- ClinVar RCV001944491
- Ensembl rs2147750229
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.74
- MetaLR 0.48
- MetaSVM -0.24
- PolyPhen-2 0.93
- SIFT 0.09
- EVE 0.27
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)