A2P (p.Ala2Pro) variant of STXBP1 (Syntaxin-binding protein 1)
A2P (p.Ala2Pro) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 9-127612407-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.28
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available