A55V (p.Ala55Val) variant of DYRK1A (Q13627)
A55V (p.Ala55Val) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- gnomAD 21-37472837-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- MetaLR 0.12
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available