L16V (p.Leu16Val) variant of TNFRSF4 (P43489)
L16V (p.Leu16Val) 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.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- rs2521782178
- ClinGen CA337803132
- ClinVar RCV003583685
- 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