F71S (p.Phe71Ser) variant of TNFRSF4 (P43489)
F71S (p.Phe71Ser) 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.
F71S (p.Phe71Ser) variant details
- p.Phe71Ser
- rs2521778866
- ClinGen CA337802085
- ClinVar RCV003871746
- 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