P27A (p.Pro27Ala) variant of LRBA (P50851)
P27A (p.Pro27Ala) 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.
P27A (p.Pro27Ala) variant details
- p.Pro27Ala
- rs1745221619
- ClinGen CA358611107
- ClinVar RCV001325746
- Ensembl rs1745221619
- 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