Q91H (p.Gln91His) variant of SCN8A (Nav1.6)
Q91H (p.Gln91His) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
Q91H (p.Gln91His) variant details
- p.Gln91His
- rs1017697457
- ClinGen CA385215542
- ClinVar RCV002891789
- Uncertain significance
- Inborn genetic diseases; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- ESM-1b 1.00
- AlphaMissense 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)