I14V (p.Ile14Val) variant of STXBP1 (Syntaxin-binding protein 1)
I14V (p.Ile14Val) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- TOPMed rs1427960857
- gnomAD rs1427960857
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.64
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available