G53S (p.Gly53Ser) variant of LRBA (P50851)
G53S (p.Gly53Ser) 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. The record also includes population frequency data.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- rs1745211052
- ClinGen CA358610840
- ClinVar RCV002819485
- TOPMed rs1745211052
- 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
- Population evidence available