D57N (p.Asp57Asn) variant of SCN4A (Nav1.4)
D57N (p.Asp57Asn) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D57N (p.Asp57Asn) variant details
- p.Asp57Asn
- gnomAD rs1403364987
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.56
- CADD 23.80
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available