Q51E (p.Gln51Glu) variant of DYRK1A (Q13627)
Q51E (p.Gln51Glu) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
Q51E (p.Gln51Glu) variant details
- p.Gln51Glu
- Ensembl rs1555977077
- Pathogenic
- Missense
- MetaLR 0.22
- MetaSVM -0.91
- SIFT 0.27
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available