P12L (p.Pro12Leu) variant of DYRK1A (Q13627)
P12L (p.Pro12Leu) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD 21-37472708-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- MetaLR 0.17
- MetaSVM -0.87
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available