Q10R (p.Gln10Arg) variant of SCN9A (Q15858)
Q10R (p.Gln10Arg) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Primary erythromelalgia; Generalized epilepsy with febrile seizures plus, type 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- rs267607030
- ClinGen CA253850
- cosmic curated COSV10031
- ClinVar RCV000006742
- Likely benign
- Primary erythromelalgia; Generalized epilepsy with febrile seizures plus, type 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- MetaLR 0.69
- MetaSVM 0.32
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Likely benign (Primary erythromelalgia; Generalized epilepsy with febrile seizu)
- EBI: Pathogenic (in PERYTHM)
- UniProt: Pathogenic (in PERYTHM)
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. (PMID 19369487)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)