K46E (p.Lys46Glu) variant of STXBP1 (Syntaxin-binding protein 1)
K46E (p.Lys46Glu) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- rs1840656743
- ClinGen CA375176277
- ClinVar RCV001266945
- Ensembl rs1840656743
- Likely pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)