M147I (p.Met147Ile) variant of LRBA (P50851)
M147I (p.Met147Ile) 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.
M147I (p.Met147Ile) variant details
- p.Met147Ile
- rs2149508763
- NCI-TCGA TCGA novel
- ClinGen CA358439191
- ClinVar RCV001900707
- 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