I153T (p.Ile153Thr) variant of IL2RG (P31785)
I153T (p.Ile153Thr) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
I153T (p.Ile153Thr) variant details
- p.Ile153Thr
- rs111033621
- ClinGen CA413496503
- ClinVar RCV001090305
- Ensembl rs111033621
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.83
- MetaLR 0.82
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.14
- EVE 0.68
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available