S56G (p.Ser56Gly) variant of SCN4A (Nav1.4)
S56G (p.Ser56Gly) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S56G (p.Ser56Gly) variant details
- p.Ser56Gly
- gnomAD rs1349509387
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.29
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available