D34Y (p.Asp34Tyr) variant of STXBP1 (Syntaxin-binding protein 1)
D34Y (p.Asp34Tyr) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D34Y (p.Asp34Tyr) variant details
- p.Asp34Tyr
- gnomAD 9-127653727-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available