K39R (p.Lys39Arg) variant of SCN9A (Q15858)
K39R (p.Lys39Arg) in SCN9A (Q15858) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- rs773030286
- ClinGen CA1944889
- ClinVar RCV002010590
- ExAC rs773030286
- Uncertain significance
- Generalized epilepsy with febrile seizures plus, type 7; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- MetaLR 0.66
- MetaSVM -0.39
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- 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 1.8e-06)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)