D71E (p.Asp71Glu) variant of SCN8A (Q9UQD0)
D71E (p.Asp71Glu) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
D71E (p.Asp71Glu) variant details
- p.Asp71Glu
- rs888638528
- ClinGen CA385228340
- ClinVar RCV001040218
- ClinVar RCV005268860
- Uncertain significance
- Developmental and epileptic encephalopathy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- ESM-1b 0.16
- AlphaMissense 0.55
- MetaLR 0.74
- MetaSVM 0.24
- PolyPhen-2 0.82
- SIFT 0.06
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy; Inborn genetic disea)
- 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)