L83V (p.Leu83Val) variant of SCN4A (Nav1.4)
L83V (p.Leu83Val) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L83V (p.Leu83Val) variant details
- p.Leu83Val
- ExAC rs766753474
- gnomAD rs766753474
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.33
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available