D50E (p.Asp50Glu) variant of DYRK1A (Q13627)
D50E (p.Asp50Glu) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D50E (p.Asp50Glu) variant details
- p.Asp50Glu
- gnomAD 21-37472823-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- MetaLR 0.28
- MetaSVM -0.78
- CADD 22.90
- PolyPhen-2 0.97
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available