T61I (p.Thr61Ile) variant of TNFRSF13B (O14836)
T61I (p.Thr61Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T61I (p.Thr61Ile) variant details
- p.Thr61Ile
- rs752511316
- ClinGen CA8414094
- cosmic curated COSV55430
- ClinVar RCV001764835
- Uncertain significance
- Immunodeficiency, common variable, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.30
- CADD 16.40
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available