T1571H (p.Thr1571His) variant of SYNJ1 (O43426)
T1571H (p.Thr1571His) in SYNJ1 (O43426) is a protein-truncating 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.
T1571H (p.Thr1571His) variant details
- p.Thr1571His
- gnomAD 21-32631069-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available