V10I (p.Val10Ile) variant of STXBP1 (Syntaxin-binding protein 1)
V10I (p.Val10Ile) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- gnomAD 9-127612431-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available