C7G (p.Cys7Gly) variant of SCN4A (Nav1.4)
C7G (p.Cys7Gly) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
C7G (p.Cys7Gly) variant details
- p.Cys7Gly
- ExAC rs755865631
- gnomAD rs755865631
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.25
- CADD 4.82
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available