A8D (p.Ala8Asp) variant of STXBP1 (Syntaxin-binding protein 1)
A8D (p.Ala8Asp) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD 9-127612426-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.49
- CADD 23.20
- PolyPhen-2 0.38
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available