Q51* (p.Gln51Ter) variant of DYRK1A (Q13627)
Q51* (p.Gln51Ter) 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 0.39 / 1. The record also includes structural context.
Q51* (p.Gln51Ter) variant details
- p.Gln51Ter
- rs1555977077
- ClinGen CA409942608
- ClinVar RCV000760626
- Ensembl rs1555977077
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.09
- MetaLR 0.22
- MetaSVM -0.91
- PolyPhen-2 0.81
- SIFT 0.15
- MutPred 0.12
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available