G5D (p.Gly5Asp) variant of STXBP1 (Syntaxin-binding protein 1)
G5D (p.Gly5Asp) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- gnomAD 9-127612417-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.56
- CADD 24.70
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available