I234T (p.Ile234Thr) variant of SCN9A (Nav1.7)
I234T (p.Ile234Thr) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.96 / 1. The record also includes published literature and structural context.
I234T (p.Ile234Thr) variant details
- p.Ile234Thr
- rs1698638581
- ClinGen CA349093253
- ClinVar RCV001171362
- ClinVar RCV002558717
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)
- Cited in: SCN9A Neuropathic Pain Syndromes. (PMID 20301342)