K97N (p.Lys97Asn) variant of SCN10A (Nav1.8)
K97N (p.Lys97Asn) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K97N (p.Lys97Asn) variant details
- p.Lys97Asn
- TOPMed rs1434479522
- gnomAD rs1434479522
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.56
- MetaLR 0.94
- MetaSVM 1.18
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available