K92Q (p.Lys92Gln) variant of SCN8A (Q9UQD0)
K92Q (p.Lys92Gln) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
K92Q (p.Lys92Gln) variant details
- p.Lys92Gln
- rs1555214325
- ClinGen CA385215544
- ClinVar RCV003591016
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- ESM-1b 1.00
- AlphaMissense 0.37
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available