E20D (p.Glu20Asp) variant of SCN8A (Q9UQD0)
E20D (p.Glu20Asp) in SCN8A (Q9UQD0) 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 0.53 / 1. The record also includes published literature and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- rs1940951373
- ClinGen CA385227540
- ClinVar RCV001368961
- ClinVar RCV002357255
- Uncertain significance
- Inborn genetic diseases; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.92
- MetaSVM 0.96
- PolyPhen-2 0.98
- SIFT 0.04
- 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)