R72L (p.Arg72Leu) variant of TNFRSF13B (O14836)
R72L (p.Arg72Leu) 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 0.48 / 1. The record also includes structural context.
R72L (p.Arg72Leu) variant details
- p.Arg72Leu
- rs55916807
- ClinGen CA398520228
- ClinVar RCV002015560
- 1000Genomes rs55916807
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 0.18
- MetaLR 0.68
- MetaSVM -0.23
- PolyPhen-2 0.00
- SIFT 0.12
- EVE 0.31
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available