N62S (p.Asn62Ser) variant of STXBP1 (Syntaxin-binding protein 1)
N62S (p.Asn62Ser) in STXBP1 (Syntaxin-binding protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
N62S (p.Asn62Ser) variant details
- p.Asn62Ser
- TOPMed rs1311665443
- gnomAD rs1311665443
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.22
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available