K54Q (p.Lys54Gln) variant of SCN8A (Q9UQD0)
K54Q (p.Lys54Gln) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 13. 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.
K54Q (p.Lys54Gln) variant details
- p.Lys54Gln
- rs755721954
- ClinGen CA6571004
- ClinVar RCV001089739
- ExAC rs755721954
- Uncertain significance
- Developmental and epileptic encephalopathy, 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.79
- MetaSVM 0.52
- CADD 22.60
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 13)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.081)
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)