K20T (p.Lys20Thr) variant of STXBP1 (Syntaxin-binding protein 1)
K20T (p.Lys20Thr) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K20T (p.Lys20Thr) variant details
- p.Lys20Thr
- gnomAD 9-127651624-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.21
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available