V1310I (p.Val1310Ile) variant of SCN9A (Nav1.7)
V1310I (p.Val1310Ile) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V1310I (p.Val1310Ile) variant details
- p.Val1310Ile
- rs121908913
- ClinGen CA349064811
- ClinVar RCV002015958
- gnomAD rs121908913
- Likely pathogenic
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- MetaLR 0.97
- MetaSVM 1.11
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- EBI: Pathogenic (in PEXPD)
- UniProt: Pathogenic (in PEXPD)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)