R39Q (p.Arg39Gln) variant of STXBP1 (Syntaxin-binding protein 1)
R39Q (p.Arg39Gln) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- gnomAD 9-127613269-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available