E80K (p.Glu80Lys) variant of SCN10A (Nav1.8)
E80K (p.Glu80Lys) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E80K (p.Glu80Lys) variant details
- p.Glu80Lys
- cosmic curated COSV71862
- TOPMed rs1053152886
- gnomAD rs1053152886
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available