Q63* (p.Gln63Ter) variant of DYRK1A (Q13627)
Q63* (p.Gln63Ter) in DYRK1A (Q13627) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q63* (p.Gln63Ter) variant details
- p.Gln63Ter
- rs373178770
- ClinGen CA409942688
- ClinVar RCV000520960
- ClinVar RCV002250650
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)