p.Leu16 Ile17del variant of STXBP1 (Syntaxin-binding protein 1)
p.Leu16 Ile17del in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu16 Ile17del variant details
- gnomAD 9-127613273-ACTTA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available