T48T (p.Thr48Thr) variant of STXBP1 (Syntaxin-binding protein 1)
T48T (p.Thr48Thr) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T48T (p.Thr48Thr) variant details
- p.Thr48Thr
- rs1462537561
- gnomAD 9-127653771-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.92
- Population evidence available
- Structural context available
- Literature evidence available