I4H (p.Ile4His) variant of STXBP1 (Syntaxin-binding protein 1)
I4H (p.Ile4His) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I4H (p.Ile4His) variant details
- p.Ile4His
- rs1341210726
- gnomAD 9-127612407-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available