L1568S (p.Leu1568Ser) variant of SYNJ1 (O43426)
L1568S (p.Leu1568Ser) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L1568S (p.Leu1568Ser) variant details
- p.Leu1568Ser
- rs764949465
- gnomAD 21-32631038-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- CADD 14.70
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available