P1566L (p.Pro1566Leu) variant of SYNJ1 (O43426)
P1566L (p.Pro1566Leu) in SYNJ1 (O43426) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P1566L (p.Pro1566Leu) variant details
- p.Pro1566Leu
- rs769381981
- gnomAD 21-32631049-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available