R84T (p.Arg84Thr) variant of TNFRSF13B (O14836)
R84T (p.Arg84Thr) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
R84T (p.Arg84Thr) variant details
- p.Arg84Thr
- rs747863360
- ClinGen CA8414059
- ClinVar RCV001352061
- ClinVar RCV004692621
- Uncertain significance
- not provided; Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.49
- CADD 15.70
- PolyPhen-2 0.71
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)