V54E (p.Val54Glu) variant of NBN (Nibrin)
V54E (p.Val54Glu) in NBN (Nibrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V54E (p.Val54Glu) variant details
- p.Val54Glu
- ExAC rs769700749
- gnomAD rs769700749
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available