E27E (p.Glu27Glu) variant of STXBP1 (Syntaxin-binding protein 1)
E27E (p.Glu27Glu) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- gnomAD 9-127651646-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 9.24
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available