G21A (p.Gly21Ala) variant of LRBA (P50851)
G21A (p.Gly21Ala) 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.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- rs1745222833
- ClinGen CA358611145
- ClinVar RCV001294898
- Ensembl rs1745222833
- 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