T1571P (p.Thr1571Pro) variant of SYNJ1 (O43426)
T1571P (p.Thr1571Pro) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
T1571P (p.Thr1571Pro) variant details
- p.Thr1571Pro
- rs1326305824
- gnomAD 21-32631006-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 25.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available