Q35H (p.Gln35His) variant of STXBP1 (Syntaxin-binding protein 1)
Q35H (p.Gln35His) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q35H (p.Gln35His) variant details
- p.Gln35His
- TOPMed rs1840653903
- gnomAD rs1840653903
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.35
- CADD 17.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available