K54E (p.Lys54Glu) variant of SCN8A (Q9UQD0)
K54E (p.Lys54Glu) in SCN8A (Q9UQD0) 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 0.64 / 1. The record also includes population frequency data and structural context.
K54E (p.Lys54Glu) variant details
- p.Lys54Glu
- ExAC rs755721954
- gnomAD rs755721954
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.84
- MetaSVM 0.75
- CADD 22.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available