K13E (p.Lys13Glu) variant of STXBP1 (Syntaxin-binding protein 1)
K13E (p.Lys13Glu) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- gnomAD 9-127612440-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.36
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available