T1571S (p.Thr1571Ser) variant of SYNJ1 (O43426)
T1571S (p.Thr1571Ser) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T1571S (p.Thr1571Ser) variant details
- p.Thr1571Ser
- rs746226206
- gnomAD 21-32631068-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 15.50
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available