K57R (p.Lys57Arg) variant of SCN9A (Nav1.7)
K57R (p.Lys57Arg) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar 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 0.60 / 1. The record also includes population frequency data and structural context.
K57R (p.Lys57Arg) variant details
- p.Lys57Arg
- TOPMed rs1288637616
- gnomAD rs1288637616
- Uncertain significance
- Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- MetaLR 0.88
- MetaSVM 0.92
- CADD 22.40
- SIFT 0.03
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory and autonomic, type 2A; Generaliz)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available