S53N (p.Ser53Asn) variant of SCN1A (Nav1.1)
S53N (p.Ser53Asn) in SCN1A (Nav1.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
S53N (p.Ser53Asn) variant details
- p.Ser53Asn
- gnomAD rs1199414919
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 22.90
- PolyPhen-2 0.52
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available