N61K (p.Asn61Lys) variant of SCN10A (Nav1.8)
N61K (p.Asn61Lys) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N61K (p.Asn61Lys) variant details
- p.Asn61Lys
- gnomAD rs1440527140
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.31
- MetaLR 0.46
- MetaSVM -0.14
- CADD 12.40
- PolyPhen-2 0.49
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available