V9F (p.Val9Phe) variant of STXBP1 (Syntaxin-binding protein 1)
V9F (p.Val9Phe) 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.
V9F (p.Val9Phe) variant details
- p.Val9Phe
- gnomAD 9-127612428-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.51
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available