N6S (p.Asn6Ser) variant of LRBA (P50851)
N6S (p.Asn6Ser) 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.
N6S (p.Asn6Ser) variant details
- p.Asn6Ser
- rs2546908330
- ClinGen CA358611234
- ClinVar RCV003038736
- 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