A8S (p.Ala8Ser) variant of STXBP1 (Syntaxin-binding protein 1)
A8S (p.Ala8Ser) in STXBP1 (Syntaxin-binding protein 1) is a missense 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.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- gnomAD 9-127612425-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.23
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available