A18T (p.Ala18Thr) variant of DYRK1A (Q13627)
A18T (p.Ala18Thr) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 21-37472725-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- MetaLR 0.34
- MetaSVM -0.47
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available