T1571K (p.Thr1571Lys) variant of SYNJ1 (O43426)
T1571K (p.Thr1571Lys) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T1571K (p.Thr1571Lys) variant details
- p.Thr1571Lys
- gnomAD 21-32631044-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 18.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available