S70I (p.Ser70Ile) variant of STXBP1 (Syntaxin-binding protein 1)
S70I (p.Ser70Ile) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The record also includes structural context.
S70I (p.Ser70Ile) variant details
- p.Ser70Ile
- ExAC rs753470248
- gnomAD rs753470248
- Missense
- Structural context available