P3S (p.Pro3Ser) variant of STXBP1 (Syntaxin-binding protein 1)
P3S (p.Pro3Ser) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- rs968935473
- gnomAD 9-127613292-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 15.40
- Population evidence available
- Structural context available
- Literature evidence available