S13N (p.Ser13Asn) variant of SCN1A (Nav1.1)
S13N (p.Ser13Asn) in SCN1A (Nav1.1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S13N (p.Ser13Asn) variant details
- p.Ser13Asn
- Ensembl rs1684704155
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 23.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available