S94T (p.Ser94Thr) variant of IL2RG (P31785)
S94T (p.Ser94Thr) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S94T (p.Ser94Thr) variant details
- p.Ser94Thr
- rs201187311
- ClinGen CA10443895
- ClinVar RCV001923706
- ESP rs201187311
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.27
- CADD 8.67
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.5e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)