V22I (p.Val22Ile) variant of STXBP1 (Syntaxin-binding protein 1)
V22I (p.Val22Ile) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V22I (p.Val22Ile) variant details
- p.Val22Ile
- gnomAD 9-127651629-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.32
- CADD 22.60
- PolyPhen-2 0.21
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available