V10F (p.Val10Phe) variant of STXBP1 (Syntaxin-binding protein 1)
V10F (p.Val10Phe) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V10F (p.Val10Phe) variant details
- p.Val10Phe
- gnomAD 9-127612431-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.65
- CADD 25.30
- PolyPhen-2 0.82
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available