K1563* (p.Lys1563Ter) variant of SYNJ1 (O43426)
K1563* (p.Lys1563Ter) in SYNJ1 (O43426) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K1563* (p.Lys1563Ter) variant details
- p.Lys1563Ter
- rs745526137
- gnomAD 21-32631030-T-TA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available