C45C (p.Cys45Cys) variant of STXBP1 (Syntaxin-binding protein 1)
C45C (p.Cys45Cys) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
C45C (p.Cys45Cys) variant details
- p.Cys45Cys
- rs1342454624
- gnomAD 9-127653762-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 12.80
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available