C45F (p.Cys45Phe) variant of STXBP1 (Syntaxin-binding protein 1)
C45F (p.Cys45Phe) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C45F (p.Cys45Phe) variant details
- p.Cys45Phe
- rs1840656429
- ClinGen CA375176272
- ClinVar RCV004047024
- ClinVar RCV006469676
- Conflicting interpretations
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.80
- CADD 24.50
- PolyPhen-2 0.32
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)