G5C (p.Gly5Cys) variant of STXBP1 (Syntaxin-binding protein 1)
G5C (p.Gly5Cys) 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 0.61 / 1. The record also includes population frequency data and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- rs1322735925
- ClinGen CA375173553
- ClinVar RCV006558865
- TOPMed rs1322735925
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.51
- CADD 27.80
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available