Q28L (p.Gln28Leu) variant of FKRP (Q9H9S5)
Q28L (p.Gln28Leu) in FKRP (Q9H9S5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
Q28L (p.Gln28Leu) variant details
- p.Gln28Leu
- ExAC rs756205019
- gnomAD rs756205019
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available