G5S (p.Gly5Ser) variant of STXBP1 (Syntaxin-binding protein 1)
G5S (p.Gly5Ser) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- gnomAD 9-127612416-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available