K7E (p.Lys7Glu) variant of STXBP1 (Syntaxin-binding protein 1)
K7E (p.Lys7Glu) 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; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- rs2132275587
- ClinGen CA375173564
- ClinVar RCV005624496
- ClinVar RCV006468289
- Conflicting interpretations
- Early-infantile DEE; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.97
- MetaLR 0.58
- MetaSVM 0.32
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.70
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Seizure)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available