S103N (p.Ser103Asn) variant of SCN1A (Nav1.1)
S103N (p.Ser103Asn) in SCN1A (Nav1.1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DRVT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
S103N (p.Ser103Asn) variant details
- p.Ser103Asn
- ExAC rs760361423
- gnomAD rs760361423
- Pathogenic
- in DRVT
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.12
- CADD 23.10
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available