T1571M (p.Thr1571Met) variant of SYNJ1 (O43426)
T1571M (p.Thr1571Met) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T1571M (p.Thr1571Met) variant details
- p.Thr1571Met
- rs111516740
- gnomAD 21-32631044-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 19.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available