I1472T (p.Ile1472Thr) variant of SCN9A (Nav1.7)
I1472T (p.Ile1472Thr) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Generalized epilepsy with febrile seizures plus, type 7; Neuropath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
I1472T (p.Ile1472Thr) variant details
- p.Ile1472Thr
- rs121908914
- ClinGen CA118152
- ClinVar RCV000006732
- ClinVar RCV002512850
- Pathogenic
- not provided; Generalized epilepsy with febrile seizures plus, type 7; Neuropath
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 0.94
- MetaLR 0.90
- MetaSVM 1.15
- SIFT 0.00
- EVE 0.59
- MutPred 0.58
- ClinVar: Pathogenic (not provided; Generalized epilepsy with febrile seizures plus, t)
- EBI: Pathogenic (in PEXPD)
- UniProt: Pathogenic (in PEXPD)
- 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)