S1565C (p.Ser1565Cys) variant of SYNJ1 (O43426)
S1565C (p.Ser1565Cys) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S1565C (p.Ser1565Cys) variant details
- p.Ser1565Cys
- gnomAD 21-32631032-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 23.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available