V1310F (p.Val1310Phe) variant of SCN9A (Nav1.7)
V1310F (p.Val1310Phe) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V1310F (p.Val1310Phe) variant details
- p.Val1310Phe
- rs121908913
- ClinGen CA118149
- ClinVar RCV000006731
- ClinVar RCV000691966
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- MetaLR 0.98
- MetaSVM 1.03
- CADD 25.90
- PolyPhen-2 1.00
- 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)