V53L (p.Val53Leu) variant of DYRK1A (Q13627)
V53L (p.Val53Leu) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V53L (p.Val53Leu) variant details
- p.Val53Leu
- gnomAD 21-37472830-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- MetaLR 0.12
- MetaSVM -0.99
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available