V137L (p.Val137Leu) variant of LRBA (P50851)
V137L (p.Val137Leu) in LRBA (P50851) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases.
V137L (p.Val137Leu) variant details
- p.Val137Leu
- gnomAD rs1241259458
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance