A46T (p.Ala46Thr) variant of NBN (Nibrin)
A46T (p.Ala46Thr) in NBN (Nibrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- TOPMed rs1812129847
- gnomAD rs1812129847
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available