E12D (p.Glu12Asp) variant of STXBP1 (Syntaxin-binding protein 1)
E12D (p.Glu12Asp) 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 Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- rs796053378
- ClinGen CA318901
- ClinVar RCV000189628
- ClinVar RCV006462031
- Conflicting interpretations
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.18
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available