I19F (p.Ile19Phe) variant of STXBP1 (Syntaxin-binding protein 1)
I19F (p.Ile19Phe) 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.
I19F (p.Ile19Phe) variant details
- p.Ile19Phe
- gnomAD 9-127613277-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 6.04
- Population evidence available
- Structural context available
- Literature evidence available