S22H (p.Ser22His) variant of DYRK1A (Q13627)
S22H (p.Ser22His) in DYRK1A (Q13627) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S22H (p.Ser22His) variant details
- p.Ser22His
- gnomAD 21-37472733-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available