A1564T (p.Ala1564Thr) variant of SYNJ1 (O43426)
A1564T (p.Ala1564Thr) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A1564T (p.Ala1564Thr) variant details
- p.Ala1564Thr
- rs762039918
- gnomAD 21-32631036-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 13.50
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available