R26P (p.Arg26Pro) variant of SCN9A (Nav1.7)
R26P (p.Arg26Pro) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R26P (p.Arg26Pro) variant details
- p.Arg26Pro
- rs111404258
- ClinGen CA59810435
- ClinVar RCV001340703
- ExAC rs111404258
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.40
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy with febrile seizures plus, type 7; Neuropa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)