L6I (p.Leu6Ile) variant of STXBP1 (Syntaxin-binding protein 1)
L6I (p.Leu6Ile) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L6I (p.Leu6Ile) variant details
- p.Leu6Ile
- gnomAD 9-127612419-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.58
- CADD 24.10
- PolyPhen-2 0.85
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available