A37G (p.Ala37Gly) variant of SCN4A (Nav1.4)
A37G (p.Ala37Gly) 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.
A37G (p.Ala37Gly) variant details
- p.Ala37Gly
- Ensembl rs1909655950
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.53
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available