A2S (p.Ala2Ser) variant of STXBP1 (Syntaxin-binding protein 1)
A2S (p.Ala2Ser) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 9-127612407-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.07
- CADD 22.40
- PolyPhen-2 0.18
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available