M1V (p.Met1Val) variant of LRBA (P50851)
M1V (p.Met1Val) 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.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs752404257
- ClinGen CA108439387
- ClinVar RCV001060712
- 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