S91G (p.Ser91Gly) variant of LRBA (P50851)
S91G (p.Ser91Gly) 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.
S91G (p.Ser91Gly) variant details
- p.Ser91Gly
- rs2149509056
- ClinGen CA358439580
- ClinVar RCV001993836
- Ensembl rs2149509056
- 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