C44C (p.Cys44Cys) variant of STXBP1 (Syntaxin-binding protein 1)
C44C (p.Cys44Cys) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
C44C (p.Cys44Cys) variant details
- p.Cys44Cys
- rs373660650
- gnomAD 9-127653759-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available