D70E (p.Asp70Glu) variant of SCN4A (Nav1.4)
D70E (p.Asp70Glu) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D70E (p.Asp70Glu) variant details
- p.Asp70Glu
- ExAC rs769263382
- gnomAD rs769263382
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.43
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available