T90K (p.Thr90Lys) variant of SCN8A (Q9UQD0)
T90K (p.Thr90Lys) 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 0.26 / 1. The record also includes structural context.
T90K (p.Thr90Lys) variant details
- p.Thr90Lys
- ExAC rs763078635
- TOPMed rs763078635
- gnomAD rs763078635
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- ESM-1b 0.00
- AlphaMissense 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available