K48E (p.Lys48Glu) variant of SCN9A (Nav1.7)
K48E (p.Lys48Glu) in SCN9A (Nav1.7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- rs2105226773
- ClinGen CA349096016
- ClinVar RCV001893986
- Ensembl rs2105226773
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 0.13
- MetaLR 0.88
- MetaSVM 0.78
- SIFT 0.03
- EVE 0.24
- MutPred 0.37
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)