L55M (p.Leu55Met) variant of SCN10A (Nav1.8)
L55M (p.Leu55Met) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L55M (p.Leu55Met) variant details
- p.Leu55Met
- ExAC rs763817509
- gnomAD rs763817509
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.33
- MetaLR 0.91
- MetaSVM 0.48
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available