Q91L (p.Gln91Leu) variant of SCN8A (Nav1.6)
Q91L (p.Gln91Leu) in SCN8A (Nav1.6) 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 0.69 / 1. The record also includes population frequency data and structural context.
Q91L (p.Gln91Leu) variant details
- p.Gln91Leu
- rs768040823
- ClinGen CA6571018
- ClinVar RCV003591019
- ExAC rs768040823
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.87
- MetaSVM 0.76
- CADD 23.80
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available