P3H (p.Pro3His) variant of STXBP1 (Syntaxin-binding protein 1)
P3H (p.Pro3His) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P3H (p.Pro3His) variant details
- p.Pro3His
- 1000Genomes rs575515332
- ExAC rs575515332
- TOPMed rs575515332
- gnomAD rs575515332
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.34
- AlphaMissense 0.48
- MetaLR 0.46
- MetaSVM 0.01
- CADD 24.80
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available