T1475I (p.Thr1475Ile) variant of SCN9A (Nav1.7)
T1475I (p.Thr1475Ile) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T1475I (p.Thr1475Ile) variant details
- p.Thr1475Ile
- rs121908915
- ClinGen CA118155
- ClinVar RCV000006733
- ClinVar RCV006555275
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.30
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- EBI: Pathogenic (in PEXPD)
- UniProt: Pathogenic (in PEXPD)
- Population evidence available
- Structural context available
- Cited in: SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. (PMID 17145499)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)