I4L (p.Ile4Leu) variant of STXBP1 (Syntaxin-binding protein 1)
I4L (p.Ile4Leu) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
I4L (p.Ile4Leu) variant details
- p.Ile4Leu
- gnomAD 9-127612407-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available