P3L (p.Pro3Leu) variant of STXBP1 (Syntaxin-binding protein 1)
P3L (p.Pro3Leu) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs575515332
- ClinGen CA375173544
- ClinVar RCV006561961
- 1000Genomes rs575515332
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.48
- MetaLR 0.46
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.41
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available