E12G (p.Glu12Gly) variant of STXBP1 (Syntaxin-binding protein 1)
E12G (p.Glu12Gly) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E12G (p.Glu12Gly) variant details
- p.Glu12Gly
- gnomAD 9-127612438-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.40
- CADD 24.10
- PolyPhen-2 0.13
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available