P3R (p.Pro3Arg) variant of STXBP1 (Syntaxin-binding protein 1)
P3R (p.Pro3Arg) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- 1000Genomes rs575515332
- ExAC rs575515332
- TOPMed rs575515332
- gnomAD rs575515332
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available