R39W (p.Arg39Trp) variant of STXBP1 (Syntaxin-binding protein 1)
R39W (p.Arg39Trp) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R39W (p.Arg39Trp) variant details
- p.Arg39Trp
- rs1262053249
- gnomAD 9-127613268-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 16.20
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available