E12K (p.Glu12Lys) variant of STXBP1 (Syntaxin-binding protein 1)
E12K (p.Glu12Lys) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- gnomAD 9-127612437-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.29
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available