A50T (p.Ala50Thr) variant of NBN (Nibrin)
A50T (p.Ala50Thr) in NBN (Nibrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency. The record also includes structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- Ensembl rs2129924411
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- UniProt: Uncertain significance
- Structural context available