T28A (p.Thr28Ala) variant of LRBA (P50851)
T28A (p.Thr28Ala) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency due to LRBA deficiency.
T28A (p.Thr28Ala) variant details
- p.Thr28Ala
- rs201608982
- ClinGen CA108439380
- ClinVar RCV001884800
- Ensembl rs201608982
- Uncertain significance
- Combined immunodeficiency due to LRBA deficiency
- Missense
- ClinVar: Uncertain significance (Combined immunodeficiency due to LRBA deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance