I117F (p.Ile117Phe) variant of LRBA (P50851)
I117F (p.Ile117Phe) in LRBA (P50851) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
I117F (p.Ile117Phe) variant details
- p.Ile117Phe
- ESP rs138267366
- ExAC rs138267366
- TOPMed rs138267366
- gnomAD rs138267366
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance