L72V (p.Leu72Val) variant of LRBA (P50851)
L72V (p.Leu72Val) 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.
L72V (p.Leu72Val) variant details
- p.Leu72Val
- rs572995926
- ClinGen CA358610723
- ClinVar RCV003045175
- 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