G5G (p.Gly5Gly) variant of DYRK1A (Q13627)
G5G (p.Gly5Gly) in DYRK1A (Q13627) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G5G (p.Gly5Gly) variant details
- p.Gly5Gly
- gnomAD 21-37456307-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 9.01
- Population evidence available
- Structural context available
- Literature evidence available