V33M (p.Val33Met) variant of SCN4A (Nav1.4)
V33M (p.Val33Met) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V33M (p.Val33Met) variant details
- p.Val33Met
- Ensembl rs374679741
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.16
- CADD 8.03
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00045)
- Structural context available