K7R (p.Lys7Arg) variant of STXBP1 (Syntaxin-binding protein 1)
K7R (p.Lys7Arg) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- gnomAD 9-127612423-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 0.90
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available