D57G (p.Asp57Gly) variant of SCN4A (Nav1.4)
D57G (p.Asp57Gly) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D57G (p.Asp57Gly) variant details
- p.Asp57Gly
- TOPMed rs1909652941
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.62
- CADD 24.30
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available