L6H (p.Leu6His) variant of STXBP1 (Syntaxin-binding protein 1)
L6H (p.Leu6His) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L6H (p.Leu6His) variant details
- p.Leu6His
- gnomAD 9-127612420-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.53
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available