T9I (p.Thr9Ile) variant of IL2RG (P31785)
T9I (p.Thr9Ile) in IL2RG (P31785) is a missense change. Clinical records from ClinVar 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 0.23 / 1. The record also includes population frequency data and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- TOPMed rs950882646
- gnomAD rs950882646
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.24
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available