F52L (p.Phe52Leu) variant of NBN (Nibrin)
F52L (p.Phe52Leu) in NBN (Nibrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
F52L (p.Phe52Leu) variant details
- p.Phe52Leu
- ExAC rs777925415
- gnomAD rs777925415
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available