D17V (p.Asp17Val) variant of STXBP1 (Syntaxin-binding protein 1)
D17V (p.Asp17Val) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D17V (p.Asp17Val) variant details
- p.Asp17Val
- gnomAD 9-127651615-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.74
- CADD 26.10
- PolyPhen-2 0.44
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available