Q18H (p.Gln18His) variant of SCN9A (Q15858)
Q18H (p.Gln18His) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- rs1404773417
- ClinGen CA349096208
- ClinVar RCV001057829
- TOPMed rs1404773417
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- MetaLR 0.84
- MetaSVM 0.80
- CADD 22.50
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- 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)