D17G (p.Asp17Gly) variant of STXBP1 (Syntaxin-binding protein 1)
D17G (p.Asp17Gly) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- gnomAD 9-127651615-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available