R39R (p.Arg39Arg) variant of STXBP1 (Syntaxin-binding protein 1)
R39R (p.Arg39Arg) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R39R (p.Arg39Arg) variant details
- p.Arg39Arg
- gnomAD 9-127613267-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 19.30
- Population evidence available
- Structural context available
- Literature evidence available