I19V (p.Ile19Val) variant of STXBP1 (Syntaxin-binding protein 1)
I19V (p.Ile19Val) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
I19V (p.Ile19Val) variant details
- p.Ile19Val
- rs1022262763
- gnomAD 9-127613277-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available