A46S (p.Ala46Ser) variant of NBN (Nibrin)
A46S (p.Ala46Ser) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency. The record also includes structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- TOPMed rs1812129847
- gnomAD rs1812129847
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available