A108T (p.Ala108Thr) variant of LRBA (P50851)
A108T (p.Ala108Thr) 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.
A108T (p.Ala108Thr) variant details
- p.Ala108Thr
- rs1579233186
- ClinGen CA358439460
- ClinVar RCV000805371
- Ensembl rs1579233186
- 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