K20M (p.Lys20Met) variant of STXBP1 (Syntaxin-binding protein 1)
K20M (p.Lys20Met) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K20M (p.Lys20Met) variant details
- p.Lys20Met
- gnomAD 9-127651624-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.37
- CADD 24.70
- PolyPhen-2 0.34
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available