E45* (p.Glu45Ter) variant of SCN9A (Q15858)
E45* (p.Glu45Ter) in SCN9A (Q15858) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E45* (p.Glu45Ter) variant details
- p.Glu45Ter
- rs1553498017
- ClinGen CA349096034
- ClinVar RCV000802937
- Ensembl rs1553498017
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)