G5V (p.Gly5Val) variant of STXBP1 (Syntaxin-binding protein 1)
G5V (p.Gly5Val) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 9-127612417-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.60
- CADD 25.00
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available