Q52* (p.Gln52Ter) variant of DYRK1A (Q13627)
Q52* (p.Gln52Ter) in DYRK1A (Q13627) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q52* (p.Gln52Ter) variant details
- p.Gln52Ter
- gnomAD rs1555977083
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available