K92R (p.Lys92Arg) variant of SCN8A (Q9UQD0)
K92R (p.Lys92Arg) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
K92R (p.Lys92Arg) variant details
- p.Lys92Arg
- Ensembl rs2138671593
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.90
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.91
- MetaSVM 1.03
- SIFT 0.01
- Structural context available