D49H (p.Asp49His) variant of STXBP1 (Syntaxin-binding protein 1)
D49H (p.Asp49His) 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 Multiple congenital anomalies/dysmorphic syndrome; Inborn genetic diseases; Earl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
D49H (p.Asp49His) variant details
- p.Asp49His
- rs1244732832
- ClinGen CA375176300
- ClinVar RCV003259039
- ClinVar RCV005626304
- Conflicting interpretations
- Multiple congenital anomalies/dysmorphic syndrome; Inborn genetic diseases; Earl
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.92
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Multiple congenital anomalies/dysmorphic syndrome; Inborn geneti)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.7e-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)