D50G (p.Asp50Gly) variant of DYRK1A (Q13627)
D50G (p.Asp50Gly) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- gnomAD 21-37472822-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- MetaLR 0.27
- MetaSVM -0.70
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available