I19L (p.Ile19Leu) variant of STXBP1 (Syntaxin-binding protein 1)
I19L (p.Ile19Leu) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I19L (p.Ile19Leu) variant details
- p.Ile19Leu
- rs1022262763
- gnomAD 9-127613277-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.18
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available