I111T (p.Ile111Thr) variant of IL2RG (P31785)
I111T (p.Ile111Thr) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I111T (p.Ile111Thr) variant details
- p.Ile111Thr
- rs778229878
- ClinGen CA10443887
- ClinVar RCV000978621
- 1000Genomes rs778229878
- Likely benign
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.40
- CADD 14.70
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Likely benign (X-linked severe combined immunodeficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:KHV population (allele frequency 0.0065)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)