S1565L (p.Ser1565Leu) variant of SYNJ1 (O43426)
S1565L (p.Ser1565Leu) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S1565L (p.Ser1565Leu) variant details
- p.Ser1565Leu
- rs1256155308
- gnomAD 21-32631023-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 18.40
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available