D60E (p.Asp60Glu) variant of DYRK1A (Q13627)
D60E (p.Asp60Glu) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D60E (p.Asp60Glu) variant details
- p.Asp60Glu
- gnomAD 21-37472853-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- MetaLR 0.20
- MetaSVM -0.94
- CADD 17.30
- PolyPhen-2 0.97
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available