V9D (p.Val9Asp) variant of STXBP1 (Syntaxin-binding protein 1)
V9D (p.Val9Asp) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V9D (p.Val9Asp) variant details
- p.Val9Asp
- gnomAD 9-127612429-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.57
- CADD 23.90
- PolyPhen-2 0.21
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available