H30Y (p.His30Tyr) variant of TNFRSF4 (P43489)
H30Y (p.His30Tyr) 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 variant effect predictions.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- rs1649348844
- ClinGen CA337802902
- ClinVar RCV001940351
- Ensembl rs1649348844
- Uncertain significance
- Combined immunodeficiency due to OX40 deficiency
- Missense
- MutPred 0.42
- ClinVar: Uncertain significance (Combined immunodeficiency due to OX40 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance