S70T (p.Ser70Thr) variant of STXBP1 (Syntaxin-binding protein 1)
S70T (p.Ser70Thr) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S70T (p.Ser70Thr) variant details
- p.Ser70Thr
- ExAC rs753470248
- gnomAD rs753470248
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.22
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available