G11V (p.Gly11Val) variant of STXBP1 (Syntaxin-binding protein 1)
G11V (p.Gly11Val) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 9-127613272-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 15.10
- Population evidence available
- Structural context available
- Literature evidence available