S8* (p.Ser8Ter) variant of DYRK1A (Q13627)
S8* (p.Ser8Ter) in DYRK1A (Q13627) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
S8* (p.Ser8Ter) variant details
- p.Ser8Ter
- cosmic curated COSV10463
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 38.00
- Population evidence available
- Structural context available