L29R (p.Leu29Arg) variant of TNFRSF4 (P43489)
L29R (p.Leu29Arg) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to OX40 deficiency. The record also includes structural context.
L29R (p.Leu29Arg) variant details
- p.Leu29Arg
- rs2521781835
- ClinGen CA337802905
- ClinVar RCV003583867
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available