I1472N (p.Ile1472Asn) variant of SCN9A (Nav1.7)
I1472N (p.Ile1472Asn) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.83 / 1. The record also includes published literature and structural context.
I1472N (p.Ile1472Asn) variant details
- p.Ile1472Asn
- rs121908914
- ClinGen CA349058419
- ClinVar RCV000656133
- ClinVar RCV002527439
- Likely pathogenic
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- 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: Likely pathogenic (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- EBI: Pathogenic (in PEXPD)
- UniProt: Pathogenic (in PEXPD)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)
- Cited in: SCN9A Neuropathic Pain Syndromes. (PMID 20301342)