R39G (p.Arg39Gly) variant of STXBP1 (Syntaxin-binding protein 1)
R39G (p.Arg39Gly) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R39G (p.Arg39Gly) variant details
- p.Arg39Gly
- gnomAD 9-127613267-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available