K45M (p.Lys45Met) variant of SCN10A (Nav1.8)
K45M (p.Lys45Met) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K45M (p.Lys45Met) variant details
- p.Lys45Met
- gnomAD rs1373042549
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.38
- MetaLR 0.84
- MetaSVM 0.14
- CADD 17.60
- PolyPhen-2 0.64
- SIFT 0.03
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available