I29L (p.Ile29Leu) variant of SCN8A (Q9UQD0)
I29L (p.Ile29Leu) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
I29L (p.Ile29Leu) variant details
- p.Ile29Leu
- rs2540119199
- ClinGen CA385227642
- ClinVar RCV002806476
- ClinVar RCV003138361
- Uncertain significance
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- ESM-1b 0.00
- AlphaMissense 0.22
- ClinVar: Uncertain significance (not provided; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available