I2651S (p.Ile2651Ser) variant of LRBA (P50851)
I2651S (p.Ile2651Ser) in LRBA (P50851) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Combined immunodeficiency due to LRBA deficiency.
I2651S (p.Ile2651Ser) variant details
- p.Ile2651Ser
- NCI-TCGA TCGA novel
- Pathogenic
- Combined immunodeficiency due to LRBA deficiency
- Missense
- ClinVar: Pathogenic (Combined immunodeficiency due to LRBA deficiency)
- UniProt: Pathogenic