I148T (p.Ile148Thr) variant of LRBA (P50851)
I148T (p.Ile148Thr) in LRBA (P50851) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance.
I148T (p.Ile148Thr) variant details
- p.Ile148Thr
- ExAC rs780932494
- gnomAD rs780932494
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance