A8A (p.Ala8Ala) variant of STXBP1 (Syntaxin-binding protein 1)
A8A (p.Ala8Ala) in STXBP1 (Syntaxin-binding protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A8A (p.Ala8Ala) variant details
- p.Ala8Ala
- gnomAD 9-127612427-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 15.40
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available