K23N (p.Lys23Asn) variant of STXBP1 (Syntaxin-binding protein 1)
K23N (p.Lys23Asn) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K23N (p.Lys23Asn) variant details
- p.Lys23Asn
- gnomAD 9-127651634-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.38
- CADD 26.40
- PolyPhen-2 0.07
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available