S43S (p.Ser43Ser) variant of STXBP1 (Syntaxin-binding protein 1)
S43S (p.Ser43Ser) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S43S (p.Ser43Ser) variant details
- p.Ser43Ser
- rs765727571
- gnomAD 9-127653756-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 12.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available