Q18L (p.Gln18Leu) variant of SCN9A (Nav1.7)
Q18L (p.Gln18Leu) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q18L (p.Gln18Leu) variant details
- p.Gln18Leu
- rs1319079239
- ClinGen CA349096211
- ClinVar RCV002050940
- TOPMed rs1319079239
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- MetaLR 0.82
- MetaSVM 0.78
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)