L1568F (p.Leu1568Phe) variant of SYNJ1 (O43426)
L1568F (p.Leu1568Phe) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L1568F (p.Leu1568Phe) variant details
- p.Leu1568Phe
- gnomAD 21-32631037-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 12.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available