E53Q (p.Glu53Gln) variant of STXBP1 (Syntaxin-binding protein 1)
E53Q (p.Glu53Gln) 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 0.63 / 1. The record also includes population frequency data and structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- rs749965674
- ClinGen CA5248228
- ClinVar RCV006471517
- ExAC rs749965674
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.56
- AlphaMissense 0.41
- MetaLR 0.58
- MetaSVM 0.19
- CADD 29.40
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available