A2D (p.Ala2Asp) variant of STXBP1 (Syntaxin-binding protein 1)
A2D (p.Ala2Asp) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 9-127612408-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.27
- CADD 24.90
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available