T52I (p.Thr52Ile) variant of TNFRSF13B (O14836)
T52I (p.Thr52Ile) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- rs1294881198
- ClinGen CA398520372
- ClinVar RCV001228433
- gnomAD rs1294881198
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.24
- CADD 6.94
- PolyPhen-2 0.02
- SIFT 0.17
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available