D49A (p.Asp49Ala) variant of STXBP1 (Syntaxin-binding protein 1)
D49A (p.Asp49Ala) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D49A (p.Asp49Ala) variant details
- p.Asp49Ala
- gnomAD rs1840657200
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.92
- CADD 28.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available