K35E (p.Lys35Glu) variant of SCN8A (Q9UQD0)
K35E (p.Lys35Glu) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
K35E (p.Lys35Glu) variant details
- p.Lys35Glu
- TOPMed rs1555214275
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.83
- MetaSVM 0.64
- SIFT 0.00
- Structural context available