R39L (p.Arg39Leu) variant of STXBP1 (Syntaxin-binding protein 1)
R39L (p.Arg39Leu) 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.
R39L (p.Arg39Leu) variant details
- p.Arg39Leu
- rs989385275
- gnomAD 9-127613269-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 15.00
- Most common in the REMAINING population (allele frequency 6.1e-05)
- Structural context available
- Literature evidence available