N62K (p.Asn62Lys) variant of STXBP1 (Syntaxin-binding protein 1)
N62K (p.Asn62Lys) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N62K (p.Asn62Lys) variant details
- p.Asn62Lys
- gnomAD 9-127613291-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available