K39N (p.Lys39Asn) variant of SCN9A (Q15858)
K39N (p.Lys39Asn) in SCN9A (Q15858) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K39N (p.Lys39Asn) variant details
- p.Lys39Asn
- rs1574913597
- ClinGen CA349096070
- ClinVar RCV000813833
- Ensembl rs1574913597
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- MetaLR 0.70
- MetaSVM 0.33
- CADD 18.60
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)