E72K (p.Glu72Lys) variant of STXBP1 (Syntaxin-binding protein 1)
E72K (p.Glu72Lys) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E72K (p.Glu72Lys) variant details
- p.Glu72Lys
- rs754668616
- ClinGen CA5248251
- ClinVar RCV001566722
- ClinVar RCV006465937
- Conflicting interpretations
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.71
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (not provided; Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available