Q18R (p.Gln18Arg) variant of SCN9A (Nav1.7)
Q18R (p.Gln18Arg) in SCN9A (Nav1.7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- TOPMed rs1319079239
- gnomAD rs1319079239
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- MetaLR 0.79
- MetaSVM 0.50
- CADD 23.40
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available